Gene Symbol | BBS1 |
Entrez Gene ID | 582 |
Full Name | Bardet-Biedl syndrome 1 |
Synonyms | BBS2L2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Bardet-Biedl syndrome 1, 209900 (3) |