Gene Symbol | CC2D1A |
Entrez Gene ID | 54862 |
Full Name | coiled-coil and C2 domain containing 1A |
Synonyms | FREUD-1,Freud-1/Aki1,MRT3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 3, 608443 (3) |