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  4. Recombinant Human Short stature homeobox protein (SHOX)

Recombinant Human Short stature homeobox protein (SHOX)

  • 中文名稱：
    人SHOX重組蛋白
  • 貨號：
    CSB-YP021276HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SHOX重組蛋白
  • 貨號：
    CSB-EP021276HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SHOX重組蛋白
  • 貨號：
    CSB-EP021276HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人SHOX重組蛋白
  • 貨號：
    CSB-BP021276HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SHOX重組蛋白
  • 貨號：
    CSB-MP021276HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    SHOX
  • Uniprot No.：
  • 別名：
    GCFX; Growth control factor, X linked; Homo sapiens shox gene, alternatively spliced products, complete cds; PHOG; Pseudoautosomal homeobox containing osteogenic; Pseudoautosomal homeobox containing osteogenic protein; Pseudoautosomal homeobox-containing osteogenic protein; Short stature homeobox; Short stature homeobox containing protein; Short stature homeobox protein; Short stature homeobox-containing protein; SHOX; SHOX_HUMAN; SHOXY; SS; Turner syndrome
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full length protein
  • 表達(dá)區(qū)域：
    1-292
  • 氨基酸序列
    MEELTAFVSK SFDQKSKDGN GGGGGGGGKK DSITYREVLE SGLARSRELG TSDSSLQDIT EGGGHCPVHL FKDHVDNDKE KLKEFGTARV AEGIYECKEK REDVKSEDED GQTKLKQRRS RTNFTLEQLN ELERLFDETH YPDAFMREEL SQRLGLSEAR VQVWFQNRRA KCRKQENQMH KGVILGTANH LDACRVAPYV NMGALRMPFQ QVQAQLQLEG VAHAHPHLHP HLAAHAPYLM FPPPPFGLPI ASLAESASAA AVVAAAAKSN SKNSSIADLR LKARKHAEAL GL
  • 蛋白標(biāo)簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復(fù)溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評價

靶點詳情

  • 功能：
    Controls fundamental aspects of growth and development.
  • 基因功能參考文獻(xiàn)：
    1. A molecular analysis of the SHOX gene revealed five patients with intragenic deletions, one with a deletion in the regulatory region, and one with a missense mutation at exon 5. The phenotype scoring system is useful to select children with SHOX deficiency in Taiwan. PMID: 29254682
    2. SHOX deficiency is associated with growth disorders. PMID: 29197219
    3. extra SHOX copy found in three of 81 girls with tall stature PMID: 28667773
    4. SHOX mutations: etiopathogenesis of short stature and limb development. PMID: 27355317
    5. SHOX haploinsufficiency has a role in short stature in children PMID: 27814343
    6. A concomitant duplication of SHOX enhancers may be required to trigger a NDD in females. PMID: 27073233
    7. Together, these findings describe CYP26C1 as the first genetic modifier for SHOX deficiency. PMID: 27861128
    8. SHOX duplications encompassing CNE-9 enhancer are highly penetrant alleles for Leri-Weill dyschondrosteosis. PMID: 28629824
    9. Evaluation of the data and that in the literature reveals that although partial deletions and duplications only account for a small fraction of SHOX alterations, intron 3 appears to be a breakpoint hotspot, with alterations arising by non-allelic homologous recombination, non-homologous end joining or other complex mechanisms. PMID: 27604558
    10. Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population. PMID: 27676402
    11. This study shows that expressing human SHOX in Shox2SHOX KI/KI mice leads to congenital osteoarthritislike disease of the temporomandibular joint in postnatal mice. This provides a novel in vivo model for studying the molecular and cellular mechanisms of temporomandibular joint osteoarthritis. PMID: 27601064
    12. we detected an SHOX gene deletion in 1 of 38 children with idiopathic short stature PMID: 26758084
    13. The 15523-bp SHOX intragenic deletion, encompassing exons 3-6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of the breakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism. PMID: 27994182
    14. this study highlights the clinical importance and genetic heterogeneity of the SHOX-flanking CNVs, and indicates a limited clinical significance of point mutations in the CNEs. PMID: 26984564
    15. SHOX haploinsufficiency is associated with 45,X disorder of sexual differentiation. PMID: 25781530
    16. Microduplications involving SHOX cause Idiopathic short stature by disrupting the cis-regulatory machinery of this gene. PMID: 26040210
    17. Mutation analysis of the SHOX gene indicated that a novel heterozygous deletion mutation of SHOX was responsible for the isolated Madelung deformity disease PMID: 25572239
    18. mutations in SHOX gene may have an impact on bone microarchitecture albeit not bone strength PMID: 25220427
    19. Polymorphic variants detected in exon 1 of SHOX gene associated with idiopathic short stature. PMID: 25189248
    20. Findings support the hypothesis that SHOX may play a central role in the regulation of the cell death pathways activated during long bone development. PMID: 24186869
    21. report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic dysplasia, a homozygous deletion of the 3' enhancer of the SHOX gene, and consanguineous parents affected by Leri-Weill dyschondrosteosis PMID: 23883335
    22. Abnormal body proportions were observed in almost all individuals with SHOX-D, 50% of females with TS and 16% of children considered idiopathic short stature. PMID: 24296787
    23. Although human SHOX can exert similar functions to mouse Shox2 in regulating early temporomandibular joint development, it apparently has a distinct function in the regulation of those molecules that are involved in tissue homeostasis. PMID: 24248941
    24. Data provide new information about the spectrum of phenotypic alterations showed by Leri-Weill dyschondrosteosis patients with different deletions of the SHOX enhancer region. PMID: 25056248
    25. SHOX haploinsufficiency is not associated with Y-chromosome microdeletions. PMID: 24008148
    26. Children with SHOX deficiency demonstrated a mesomelic shortening of extremities. PMID: 24051572
    27. rhGH therapy improves height outcome of SHOXD patients. PMID: 23570464
    28. both hSHOX and mShox2 limb enhancers are coupled to distinct neural enhancers. This is the first report demonstrating the activity of cis-regulatory elements from the hSHOX and mShox2 genomic regions in mammalian embryos. PMID: 23575226
    29. Data suggest that haploinsufficiency (loss of 1 copy) of SHOX is responsible for developmental bone disease (as identified by radial bone phenotype) and growth disorder associated with Turner syndrome (in prepubertal girls in Czech Republic). PMID: 23666967
    30. Patients with isolated SHOX deficiency are characterized by decreased cortical volumetric bone mineral density and cortical thickness and enlarged diaphysis; similar changes have been described in girls with Turner syndrome, these findings suggest that haploinsufficiency of SHOX could cause characteristic skeletal anomalies at the radius. PMID: 23426705
    31. impaired GH secretion is not uncommon in SHOX deficiency subjects, and rhGH therapy may be effective in increasing height in most of these patients independent of their GH secretory status, without causing any adverse events of concern. PMID: 23208451
    32. Mutant SHOX minigene generated only the smaller transcript PMID: 23426818
    33. SHOX has a particular importance in bone growth and maturation. PMID: 21057177
    34. SHOX deficiency could be one of the most frequent monogenetic causes of short stature. PMID: 21057178
    35. identification of evolutionarily conserved non-coding DNA elements (CNE)and functional studies have shown that one of these CNE downstream of the SHOX gene is necessary for the expression of SHOX; typical "enhancer" activity. PMID: 21057179
    36. Data identified the homeodomain protein HOXA9 as a positive regulator of SHOX expression in U2OS cells. PMID: 23028966
    37. The presence of SHOX mutations suggest genotypic-phenotypic overlap between hypochondroplasia and Leri-Weill dyschondrosteosis. PMID: 22903874
    38. The identified recurrent PAR1 deletion results in the loss of this previously unreported enhancer which we propose may decrease SHOX transcription, resulting in Leri-Weill dyschondrosteosis or idiopathic short stature due to SHOX haploinsufficiency. PMID: 22791839
    39. Employing microarray analyses and cell culture experiments, a strong effect of SHOX on the expression of the natriuretic peptide BNP and the fibroblast growth factor receptor gene FGFR3 could be demonstrated PMID: 22946287
    40. SHOX deletions and point mutations as well as downstream SHOX enhancer deletions were identified in almost one third of the patients tested. PMID: 22518848
    41. genetic association studies in a population of German children: Data suggest that mutations in SHOX and/or IGF1R (but not IGF1) are associated with short stature in a small percentage of short children. PMID: 22572840
    42. we have identified A170P as the first frequent SHOX mutation in Gypsy Leri-Weill dyschondrosteosis (LWD) or Langer mesomelic dysplasia (LMD) individuals. PMID: 21712857
    43. one deletion encompassed two of the three upstream enhancers in a family with idiopathic short stature PMID: 22071895
    44. Patients shared common clinical, anthropometric and radiological signs but their height deficit varied, depending on the type of the SHOX gene anomaly. PMID: 21912078
    45. Patients with deletions of the distal segment of the short arm of X chromosome including haploinsufficiency of SHOX have short stature, skeletal abnormalities and hearing impairments. Review. PMID: 21925981
    46. Our study suggests disproportionateness, especially in combination with muscular hypertrophy, as relevant indicators of ISS to be the effect of SHOX defect. PMID: 22020182
    47. Our study in an extensive cohort of patients with Mullerian aplasia does not support a role for SHOX copoy number variations in the etiology of the disorder PMID: 21806840
    48. identified SOX5 and SOX6 as the first two SHOX-interacting proteins and have shown that this interaction regulates aggrecan expression, an essential factor in chondrogenesis and skeletal development. PMID: 21262861
    49. chromatin immunoprecipitation and electrophoretic mobility shift assay experiments suggest a direct binding of fibroblast growth factor receptor 3 PMID: 21273290
    50. there is a functional redundancy between human SHOX and mouse Shox2 in the regulation of SAN formation and pacemaking function in addition to several other organs PMID: 21454626

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  • 相關(guān)疾病：
    Leri-Weill dyschondrosteosis (LWD); Langer mesomelic dysplasia (LMD); Short stature, idiopathic, X-linked (ISS)
  • 亞細(xì)胞定位：
    Nucleus.
  • 蛋白家族：
    Paired homeobox family, Bicoid subfamily
  • 組織特異性：
    SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not expressed in brain, kidney, liver and lung. Highly exp
  • 數(shù)據(jù)庫鏈接：

    HGNC: 10853

    OMIM: 127300

    KEGG: hsa:6473

    STRING: 9606.ENSP00000370990

    UniGene: Hs.105932