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FAM58A |
LOCUS ID | 92002 |
GENE_SYMBOL | FAM58A |
GENE NAME | family with sequence similarity 58 member A |
SYNONYMNS | STAR |
CHROMOSOME | X |
HOMOLOGENE ID | 13362 |
GENE SUMMARY |
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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] |