FERRY3

Chr 12AR

FERRY endosomal RAB5 effector complex subunit 3

Also known as: C12orf4, Fy-3, MRT66

NCBI Gene: 57102 ENSG00000047621 UniProt: Q9NQ89 OMIM: 616082

The protein is a component of the FERRY complex that mediates endosomal transport of specific mRNAs and ribosomes by interacting directly with mRNAs and RAB5A, and also functions in mast cell degranulation. Mutations cause autosomal recessive intellectual developmental disorder. This follows an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]

OMIM ResearchGenerating clinical summary…