Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.[5]

BBS10
Identifiers
AliasesBBS10, C12orf58, Bardet-Biedl syndrome 10
External IDsOMIM: 610148; MGI: 1919019; HomoloGene: 49781; GeneCards: BBS10; OMA:BBS10 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024685

NM_027914

RefSeq (protein)

NP_078961

NP_082190

Location (UCSC)Chr 12: 76.34 – 76.35 MbChr 10: 111.13 – 111.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6][7]

Clinical significance

edit

Mutations in this gene are associated with the Bardet–Biedl syndrome.[5]

References

edit
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179941Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035759Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 32269156.
  6. ^ "Entrez Gene: Bardet-Biedl syndrome 10".
  7. ^ Maruyama, K; Sugano, S (28 January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

Further reading

edit
edit