External Ids for C12orf4 Gene
Previous GeneCards Identifiers for C12orf4 Gene
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]
GeneCards Summary for C12orf4 Gene
C12orf4 (Chromosome 12 Open Reading Frame 4) is a Protein Coding gene. Diseases associated with C12orf4 include Autosomal Recessive Non-Syndromic Intellectual Disability and Hypophosphatemic Rickets, Autosomal Dominant.
UniProtKB/Swiss-Prot for C12orf4 Gene
Plays a role in mast cell degranulation.