FA58A Rabbit Polyclonal Antibody

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], disease:Defects in FAM58A are the cause of toe syndactyly, telecanthus, and anogenital and renal malformations (STAR) [MIM:300707]; also known as STAR syndrome or syndactyly with renal and anogenital malformations., function:May have a role in cell proliferation., similarity:Belongs to the cyclin family. Cyclin-like FAM58 subfamily., subunit:Interacts with SALL1.