LY6G5C

Chr 6

lymphocyte antigen 6 family member G5C

Also known as: C6orf20, G5C, LY6G5CA, LY6G5CB, NG33

NCBI Gene: 80741 ENSG00000204428 UniProt: Q5SRR4 OMIM: 610434

The LY6G5C protein is a GPI-anchored cell surface protein that may function in hematopoietic cell differentiation and belongs to the leukocyte antigen-6 superfamily involved in signal transduction. No disease associations or inheritance patterns have been established for mutations in this gene based on the available information.

OMIM ResearchSummary from RefSeq, UniProt

LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]

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

0.93

LOEUF

Mechanism· predicted