FAM58A gene

family with sequence similarity 58 member A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Activating cyclin for the cyclin-associated kinase CDK10.

From NCBI Gene:

  • STAR syndrome

From UniProt:

Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR): A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. [MIM:300707]

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28

Molecular Location: base pairs 153,587,925 to 153,599,177 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28