C12orf4 gene

chromosome 12 open reading frame 4

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Plays a role in mast cell degranulation.

From NCBI Gene:

  • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66

Cytogenetic Location: 12p13.32, which is the short (p) arm of chromosome 12 at position 13.32

Molecular Location: base pairs 4,487,730 to 4,538,508 on chromosome 12 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 12p13.32, which is the short (p) arm of chromosome 12 at position 13.32