BBS7 Gene

Alternative Names

  • BBS7
  • FLJ10715

Associated Diseases

Bardet-Biedl Syndrome 7
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OMIM Number

607590

NCBI Gene ID

55212

Uniprot ID

Q8IWZ6

Length

46,159 bases

No. of Exons

19

No. of isoforms

2

Protein Name

Bardet-Biedl syndrome 7 protein

Molecular Mass

80353 Da

Amino Acid Count

715

Genomic Location

chr4:121,824,328-121,870,486

Gene Map Locus
4q27

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_176824.2:c.340A>GArabNC_000004.12:g.121861505T>CUncertain SignificanceNG_009111.1:g.13983A>G; NM_176824.2:c.340A>G; NP_789794.1:p.Met114Val142305911
NM_176824.3:c.124G>AUnited Arab EmiratesNC_000004.12:g.121863258C>TUncertain SignificanceBardet-Biedl Syndrome 7NG_009111.1:g.12230G>A; NM_176824.3:c.124G>A; NP_789794.1:p.Gly42Arg
NM_176824.3:c.529-99T>ASaudi Arabia; United A...NC_000004.12:g.121855660A>TBenignNG_009111.1:g.19828T>A; NM_176824.3:c.529-99T>A; NP_789794.1:p.?
NM_176824.3:c.602-2A>TSaudi ArabiaNC_000004.12:g.121854822T>ALikely Pathogenic, PathogenicBardet-Biedl Syndrome 7NG_009111.1:g.20666A>T; NM_176824.3:c.602-2A>T
NM_176824.3:c.934+32A>GSaudi ArabiaNC_000004.12:g.121848812T>CBenignBenignNG_009111.1:g.26676A>G; NM_176824.3:c.934+32A>G6824258262924
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