|
|||||
Entrez gene ID | 55212 |
Official gene symbol | BBS7 |
Full name | Bardet-Biedl syndrome 7 |
Aliases | ,BBS2L1,FLJ10715, |
Gene summary | Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] |
Location | Chromosome: 4 Locus: |
Gene position | 122791642 - 122745635 Map Viewer |
OMIM ID | 607590 |