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IGFALS Antibody

  • 货号：
    CSB-PA009505
  • 规格：
    ￥880
  • 图片：
    • Western Blot analysis of CoLo cells using ALS Polyclonal Antibody
  • 其他：

产品详情

  • Uniprot No.：
    P35858
  • 基因名：
    IGFALS
  • 别名：
    IGFALS antibody; ALSInsulin-like growth factor-binding protein complex acid labile subunit antibody; ALS antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human ALS.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    ELISA 1:10000
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.
  • 基因功能参考文献：
    1. The aim of this study was to evaluate the potential pathogenicity of eleven IGFALS variants. PMID: 27018247
    2. To the known phenotype of ACLSD (i.e. short stature, reduced serum levels of IGF-I and ALS, extremely low serum IGFBP-3 and disturbed ternary complex formation), the study adds reduced birth weight, head circumference and serum IGF-II. PMID: 28249955
    3. Mutations in the IGFALS and low expression level of IGFALS proteins lead to growth and development retardation. [Review] PMID: 26704943
    4. A novel homozygous mutation in IGFALS, c.380T>C (p.L127P), was identified in two siblings of a consanguineous family. PMID: 23488611
    5. Heterozygous IGFALS gene variants could be responsible for short stature in a subset of idiopathic short stature children with diminished levels of IGF-1, IGFBP-3 and ALS. PMID: 24335034
    6. These gene dosage effects demonstrate that one functional IGFALS allele is insufficient to maintain normal ALS levels, endocrine IGF-I action, full growth potential, muscle size, and periosteal expansion. PMID: 24423360
    7. functional analysis supported a tumor-suppressive function for IGFALS in vitro. PMID: 22689435
    8. Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with growth hormone insensitivity. PMID: 22678306
    9. low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function. PMID: 21664162
    10. D440N mutation in ALS generates a hyperglycosylated form with impaired secretion and complex formation, potentially leading to dysregulation of endocrine IGF, thus contributing to growth retardation PMID: 21177759
    11. We describe that the human placenta expresses the mRNA and the protein for ALS, and we observed an increase in ALS mRNA expression and protein content in small compared with appropriate for gestational age placentas. PMID: 20943791
    12. Findings suggest that common genetic variation in the ALS gene is not related to IGF-I levels and mammographic density. PMID: 20155489
    13. Heterozygosity for IGFALS mutations results in approximately 1.0SD height loss compared to wild type. PMID: 20591980
    14. serum acid labile subunit levels were elevated in girls with central precocious puberty and decreased significantly during the first year of GnRH analog therapy PMID: 12364447
    15. Inactivation of the IGFALS gene caused delayed onset of puberty in 17 year old boy PMID: 14762184
    16. Key role of ALS in regulating transendothelial IGF transport. PMID: 15126567
    17. A modest reduction in post-natal growth in the null ALS mice and in the ALS-deficient patients was observed PMID: 16114275
    18. haploinsufficiency of the IGFALS gene has no discernible clinical effects PMID: 17726072
    19. Primary ALS deficiency due to IGFALS mutations should be considered as a possible cause of postnatal growth deficit in IGF-I-deficient patients in the absence of GH deficiency or insensitivity. PMID: 18303074
    20. IGFALS sequence variants are unlikely to be a common association with pubertal delay in children with constitutional delay of groth and puberty. PMID: 18362293
    21. The clinical presentation of homozygous ALS mutations may, besides short stature, include microcephaly. PMID: 18463107
    22. 14 different mutations of human IGFALS gene have been identified in 17 patients, suggesting that ALS deficiency may be prevalent in a subset of patients with very low serum levels of IGF-I & IGFBP-3 that remain low upon growth hormone stimulation[review] PMID: 19729943

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  • 相关疾病：
    Acid-labile subunit deficiency (ACLSD)
  • 亚细胞定位：
    Secreted, extracellular space.
  • 组织特异性：
    Plasma.
  • 数据库链接：

    HGNC: 5468

    OMIM: 601489

    KEGG: hsa:3483

    STRING: 9606.ENSP00000416683

    UniGene: Hs.839