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Details of CC2D1A gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| CC2D1A | AKI1 | Q6P1N0 | C2D1A_HUMAN | 54862 | ENSG00000132024 | Coiled-coil and C2 domain-containing protein 1A | SPROT |
Disease |
Disease |
OMIM id |
Mental retardation, autosomal recessive 3 (MRT3) [MIM:608443]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. Note=The disease is caused by mutations affecting the gene represented in this entry. |
608443 |