BBS10

BBS10
Identifiers
Aliases BBS10, C12orf58, Bardet-Biedl syndrome 10
External IDs MGI: 1919019 HomoloGene: 49781 GeneCards: BBS10
Orthologs
Species Human Mouse
Entrez

79738

71769

Ensembl

ENSG00000179941

ENSMUSG00000035759

UniProt

Q8TAM1

Q9DBI2

RefSeq (mRNA)

NM_024685

NM_027914

RefSeq (protein)

NP_078961.3

NP_082190.1

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

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

Function

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

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

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 1 2 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

External links


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