EFR3A

Chr 8

EFR3 homolog A

NCBI Gene: 23167 ENSG00000132294 UniProt: Q14156 OMIM: 611798

EFR3A encodes a membrane-anchoring protein that localizes phosphatidylinositol 4-kinase to the plasma membrane and regulates phosphatidylinositol 4-phosphate synthesis, while also affecting G-protein-coupled receptor responsiveness. Mutations cause autism spectrum disorders with autosomal inheritance patterns. The gene is highly intolerant to loss-of-function variants, suggesting that even heterozygous mutations can cause disease.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.77

LOEUF

GOF

Mechanism· predicted