LY6G5B

Chr 6

lymphocyte antigen 6 family member G5B

Also known as: C6orf19, G5b

NCBI Gene: 58496 ENSG00000240053 UniProt: Q8NDX9 OMIM: 610433

The LY6G5B protein is a cell surface glycoprotein anchored by glycosylphosphatidylinositol (GPI) that participates in signal transduction and belongs to the leukocyte antigen-6 superfamily within the MHC class III region. This gene is extremely intolerant to loss-of-function mutations (pLI near 1.0), but no established human disease associations have been reported for LY6G5B mutations.

OMIM ResearchSummary from RefSeq

LY6G5B 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…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.64

LOEUF

GOF

Mechanism· predicted