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

From UniProt:

Mental retardation, autosomal recessive 66 (MRT66): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT66 patients have intellectual disability, delayed speech development, neuropsychiatric symptoms, and relatively normal life span. [MIM:618221]

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 Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

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