Gene: C12orf4

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.32

Description of this Gene: chromosome 12 open reading frame 4

Type of Gene: protein-coding

rs4238020 in C12orf4 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs2970818 in C12orf4 gene and Inorganic phosphate measurement PMID 20558539 2010 Common genetic variants associate with serum phosphorus concentration.

rs1468772495 in C12orf4 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 PMID 28097321 2017 Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 27311568 2017 Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

rs2970818 in C12orf4 gene and Phosphorus measurement PMID 20558539 2010 Common genetic variants associate with serum phosphorus concentration.