BBS10

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BBS10
Identifiers
Aliases BBS10, C12orf58, Bardet-Biedl syndrome 10
External IDs MGI: 1919019 HomoloGene: 49781 GeneCards: BBS10
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024685

NM_027914

RefSeq (protein)

NP_078961

NP_082190.1
NP_082190

Location (UCSC) Chr 12: 76.34 – 76.35 Mb Chr 10: 111.3 – 111.3 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Bardet-Biedl syndrome 10, also known as BBS10 is a human gene.[3]

Function[edit]

The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes.[4]

Clinical significance[edit]

Mutations in this gene are associated with the Bardet-Biedl syndrome.[3]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H (May 2006). "BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus". Nat. Genet. 38 (5): 521–4. doi:10.1038/ng1771. PMID 16582908. 
  4. ^ "Entrez Gene: Bardet-Biedl syndrome 10". 

Further reading[edit]

External links[edit]