Gene: AHSG

Alternate names for this Gene: A2HS|AHS|APMR1|FETUA|HSGA

Gene Summary: The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.3

Description of this Gene: alpha 2-HS glycoprotein

Type of Gene: protein-coding

rs201849460 in AHSG gene and Alopecia-Mental Retardation Syndrome 1 PMID 28054173 2017 Association of AHSG with alopecia and mental retardation (APMR) syndrome.

rs2518134 in AHSG gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2070634 in AHSG gene and NEPHROLITHIASIS, CALCIUM OXALATE PMID 24886237 2014 A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease.