BBS7

Name

Bardet-Biedl syndrome 7

Type

protein-coding

Position

121,824,329–121,870,494 (−)

Aliases

BBS2L1

Ensembl

ENSG00000138686

RefSeq RNA

NM_018190.4, NM_176824.3, XM_005263106.5, XM_011532079.4, XM_011532080.4

RefSeq protein

NP_060660.2, NP_789794.1, XP_005263163.1, XP_011530381.1, XP_011530382.1

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014].

via MyGene.info

Gene · Ensembl

Bardet-Biedl syndrome 7

Symbol

BBS7

Biotype

Protein coding

Organism

Homo sapiens

Location

4:121,824,329-121,870,502

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

via Wikidata · CC0