| Full gene name: | family with sequence similarity 58, member A |
|---|---|
| Entrez Gene ID: | 92002 |
| Location: | Xq28 |
| Synonyms: | STAR |
| Type: | protein-coding |
SNPs given by the user that are near or inside this gene:
| SNP | Distance (bp) | Direction |
|---|---|---|
| rs3020789 | 28355 | upstream |
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]
| OMIM ID: | `OMIM ID 300708 `_ |
|---|
Allelic Variants (Selected Examples)
.0001 STAR SYNDROME
In a girl with STAR syndrome (300707) and additional features of lower lid coloboma, epilepsy, and syringomyelia, Unger et al. (2008) found a heterozygous deletion on chromosome Xq28 of approximately 40 kb that removed exons 1 and 2 as well as intron 1, a portion of intron 2, and the 5-prime untranslated region, of the FAM58A gene.
.0002 STAR SYNDROME
In a girl with STAR syndrome (300707), Unger et al. (2008) detected a de novo heterozygous deletion of 4,249 bp which removed 1,265 bp of intron 4, all of exon 5 including the 3-prime untranslated region, and 2,454 bp of 3-prime sequence.
.0003 STAR SYNDROME
In a patient with STAR syndrome (300707), Unger et al. (2008) identified a mutation in the FAM58A gene affecting the splice donor site of intron 4: 555+1G-A.
.0004 STAR SYNDROME
In a girl with STAR syndrome (300707), Unger et al. (2008) identified a frameshift mutation, 201dupT, in the FAM58A gene, which immediately resulted in a premature stop codon (N68XfsX1).
.0005 STAR SYNDROME
In the mother and daughter reported by Green et al. (1996) with STAR syndrome (300707), Unger et al. (2008) found a mutation in the FAM58A gene, 556-1G-A, which altered the splice acceptor site of intron 4.
No pathways found linked to this gene.
Recent articles: