AHSG Chromosome 3
Alpha 2-HS glycoprotein
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What This Gene Does
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. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Cystatins, type 4
Locus Type
gene with protein product
Location
3q27.3
Ensembl
ENSG00000145192
Associated Conditions (3)
Nephrolithiasis
calcium oxalate
Alopecia-intellectual disability syndrome 1
Key Variants
RS2070634
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS2070635
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS370627604
Conflicting classifications of pathogenicity
Alopecia-intellectual disability syndrome 1, Alopecia-intellectual disability syndrome 1
Health Risk
RS201849460
Pathogenic
Alopecia-intellectual disability syndrome 1, Alopecia-intellectual disability syndrome 1
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2070634 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS2070635 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS370627604 | Health Risk | Conflicting classifications of pathogenicity | Alopecia-intellectual disability syndrome 1, Alopecia-intellectual disability syndrome 1 |
| RS201849460 | Health Risk | Pathogenic | Alopecia-intellectual disability syndrome 1, Alopecia-intellectual disability syndrome 1 |