IGFALS Antibody

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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HGNC: 5468

OMIM: 601489

KEGG: hsa:3483

STRING: 9606.ENSP00000416683

UniGene: Hs.839