GTR Home > Genes

FAM58A family with sequence similarity 58, member A

Also known as: STAR

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
STAR syndrome
MedGen: C2678045OMIM: 300707GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-04-26)

ISCA Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2013-04-26)

ISCA Genome Curation PagePubMed

Genomic context

Location:
Xq28
Sequence:
Chromosome: X; NC_000023.11 (153587925..153599177, complement)
Total number of exons:
5

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk