AHSG gene

From NCBI Gene:

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]

From UniProt:

From NCBI Gene:

• Alopecia mental retardation syndrome 1

From UniProt:

Alopecia-mental retardation syndrome 1 (APMR1): A rare autosomal recessive form of alopecia. APMR1 patients show loss of hair on the scalp, absence of eyebrows, eyelashes, axillary and pubic hair, and mild to severe mental retardation. [MIM:203650]

Cytogenetic Location: 3q27.3, which is the long (q) arm of chromosome 3 at position 27.3

Molecular Location: base pairs 186,613,060 to 186,621,318 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20191205, GRCh38.p13) (NCBI)

• A2HS
• AHS
• APMR1
• FETUA
• HSGA