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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for BBS1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID582
Official gene symbolBBS1
Full nameBardet-Biedl syndrome 1
Aliases,BBS2L2,FLJ23590,MGC126183,MGC126184,MGC51114,
Gene summaryMutations 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]
LocationChromosome: 11   Locus: 11q13.1
Gene position66278119 - 66301084  Map Viewer
Gene orientationplus
Gene size22966 bp
Gene sequence
OMIM ID209901