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Bardet-Biedl syndrome 7 protein; BBS2-like protein 1 (BBS7, BBS2L1)

Function: - component of the BBsome complex Compartment: - cell projection, cilium membrane, cytoplasm - localizes to nonmembranous centriolar satellites in the cytoplasm Alternative splicing: named isoforms=2 Expression: - isoform 2 is ubiquitously expressed - isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart & pancreas Pathology: - ciliary dysfunction - defects in BBS7 are a cause of Bardet-Biedl syndrome type 7

Related

Bardet-Biedl syndrome

General

Bardet-Biedl syndrome protein (BBS)

Properties

SIZE: entity length = 715 aa MW = 80 kD COMPARTMENT: cytoplasm

Database Correlations

OMIM correlations MORBIDMAP 607590 UniProt Q8IWZ6 Entrez Gene 55212 Kegg hsa:55212

References

  1. UniProt :accession Q8IWZ6
  2. Mutations of the BBS7 gene Retina International's scientific newsletter http://www.retina-international.org/files/sci-news/bbs7mut.htm
  3. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/BBS7

Component-of

BBsome complex