Gene Symbol | CCNQ |
Entrez Gene ID | 92002 |
Full Name | cyclin Q |
Synonyms | FAM58A,STAR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | STAR syndrome, 300707 (3) |