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Details of RPS6KA3 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| RPS6KA3 | ISPK1,MAPKAPK1B,RSK2 | P51812 | KS6A3_HUMAN | 6197
| ENSG00000177189
| Ribosomal protein S6 kinase alpha-3 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Coffin-Lowry syndrome (CLS) [MIM:303600]: A X-linked mental retardation associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders. Note=The disease is caused by mutations affecting the gene represented in this entry. |
303600 |
Mental retardation, X-linked 19 (MRX19) [MIM:300844]: A non-syndromic form of mild to moderate mental retardation. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry. |
300844 |
