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Validated All-in-One™ qPCR Primer for IGFALS(NM_004970.2) Search again
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
Summary
The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty.
Gene References into function
- Total and free insulin-like growth factor I, insulin-like growth factor binding protein 3 and acid-labile subunit reflect clinical activity in acromegaly.
- serum acid labile subunit levels were elevated in girls with central precocious puberty and decreased significantly during the first year of GnRH analog therapy
- Inactivation of the IGFALS gene caused delayed onset of puberty in 17 year old boy
- Key role of ALS in regulating transendothelial IGF transport.
- A modest reduction in post-natal growth in the null ALS mice and in the ALS-deficient patients was observed
- polymorphisms in the IGF-1R and IGFBP3 genes, but not IGF-1 or IGFALS, may be associated with altered survival among subgroups of breast cancer patients defined by menopausal status
- haploinsufficiency of the IGFALS gene has no discernible clinical effects
- 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.
- IGFALS sequence variants are unlikely to be a common association with pubertal delay in children with constitutional delay of groth and puberty.
- The clinical presentation of homozygous ALS mutations may, besides short stature, include microcephaly.
