BBS10: Difference between revisions

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== Function ==
== Function ==


The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II [[chaperonin]]s. 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 [[cilium|ciliogenesis]] in pre[[adipocyte]]s.<ref name="entrez">{{cite web |title=Entrez Gene: Bardet-Biedl syndrome 10 |url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79738 |accessdate=}}</ref>
The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II [[chaperonin]]s. 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 [[cilium|ciliogenesis]] in pre[[adipocyte]]s.<ref name="entrez">{{cite web |title=Entrez Gene: Bardet-Biedl syndrome 10 |url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79738 |accessdate=}}</ref><ref>{{cite journal|last1=Maruyama|first1=K|last2=Sugano|first2=S|title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.|journal=Gene|date=28 January 1994|volume=138|issue=1-2|pages=171-4|doi=10.1016/0378-1119(94)90802-8|pmid=8125298}}</ref>


== Clinical significance ==
== Clinical significance ==
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*{{cite journal |vauthors=Dollfus H, Muller J, Stoetzel C |title=[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)] |journal=Med Sci (Paris) |volume=22 |issue= 11 |pages= 901–4 |year= 2006 |pmid= 17101080 |doi=10.1051/medsci/20062211901|display-authors=etal}}
*{{cite journal |vauthors=Dollfus H, Muller J, Stoetzel C |title=[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)] |journal=Med Sci (Paris) |volume=22 |issue= 11 |pages= 901–4 |year= 2006 |pmid= 17101080 |doi=10.1051/medsci/20062211901|display-authors=etal}}
*{{cite journal |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8}}
*{{cite journal |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8}}
*{{cite journal |vauthors=Marion V, Stoetzel C, Schlicht D |title=Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=106 |issue= 6 |pages= 1820–5 |year= 2009 |pmid= 19190184 |doi= 10.1073/pnas.0812518106 |pmc=2635307 |display-authors=etal}}
*{{cite journal |vauthors=Marion V, Stoetzel C, Schlicht D |title=Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=106 |issue= 6 |pages= 1820–5 |year= 2009 |pmid= 19190184 |doi= 10.1073/pnas.0812518106 |pmc=2635307 |display-authors=etal|url=http://www.hal.inserm.fr/inserm-00370150/document }}
*{{cite journal |vauthors=Laurier V, Stoetzel C, Muller J |title=Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism |journal=Eur. J. Hum. Genet. |volume=14 |issue= 11 |pages= 1195–203 |year= 2006 |pmid= 16823392 |doi= 10.1038/sj.ejhg.5201688 |display-authors=etal}}
*{{cite journal |vauthors=Laurier V, Stoetzel C, Muller J |title=Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism |journal=Eur. J. Hum. Genet. |volume=14 |issue= 11 |pages= 1195–203 |year= 2006 |pmid= 16823392 |doi= 10.1038/sj.ejhg.5201688 |display-authors=etal}}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|display-authors=etal}}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|display-authors=etal}}

Latest revision as of 14:55, 28 August 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Bardet-Biedl syndrome 10, also known as BBS10 is a human gene.[1]

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.[2][3]

Clinical significance

Mutations in this gene are associated with the Bardet-Biedl syndrome.[1]

References

  1. 1.0 1.1 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.
  2. "Entrez Gene: Bardet-Biedl syndrome 10".
  3. 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

External links