Bardet-Biedl syndrome 7 (BBS7)

Name: BBS7
Description: Bardet-Biedl syndrome 7
Orgname: Homo sapiens
Status: 0
CurrentID: 0
Chromosome: 4
GeneticSource: genomic
MapLocation: 4q27
OtherAliases: BBS2L1, FLJ10715
OtherDesignations: BBS2-like 1|Bardet-Biedl syndrome 7 protein
NomenclatureSymbol: BBS7
NomenclatureName: Bardet-Biedl syndrome 7
NomenclatureStatus: Official
TaxID: 9606
Mim:
GenomicInfo:
GeneWeight: 3004
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]
ChrSort: 04
ChrStart: 122745634

UniProtein db: BBS7 UniProt protein knowledge database
Ensembl db: BBS7 Ensembl genome database

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