FAM3A

Chr X

FAM3 metabolism regulating signaling molecule A

Also known as: 2.19, DLD, DXS560S, XAP-7

NCBI Gene: 60343 ENSG00000071889 UniProt: P98173 OMIM: 300492

This gene encodes a cytokine-like protein that may function as a defensin against fungal pathogens and is involved in glucose and lipid metabolism regulation. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.602), but no established Mendelian diseases have been definitively associated with FAM3A mutations in current medical literature. Clinical significance of variants in this gene remains uncertain pending further research.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a cytokine-like protein. The expression of this gene may be regulated by peroxisome proliferator-activated receptor gamma, and the encoded protein may be involved in the regulation of glucose and lipid metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

—

Mechanism