Property Summary

NCBI Gene PubMed Count 14
Grant Count 5
R01 Count 4
Funding $550,830.21
PubMed Score 8.12
PubTator Score 10.79

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Synonym

Accession Q6ZW61 D3DNX5 Q7Z342 Q7Z482 Q8NAB8
Symbols C4orf24

Gene

PANTHER Protein Class (2)

Gene RIF (6)

PMID Text
24611592 novel BBS12 mutations in Bardet-Biedl syndrome patients in Spain
22958920 BBS12 inactivation increases glucose absorption by mature human adipocytes, increases insulin sensitivity, enhances glucose absorption and increases triglyceride content.
20827784 Mutation in BBS12 accounts for Bardet-Biedl syndrome and termination of pregnancy of a fetus.
20472660 Using sequence analysis, the role of BBS6, 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families.
19190184 the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the GSK3 pathway, and induces PPAR nuclear accumulation, hence favoring adipogenesis
17160889 BBS12 accounts for approximately 5% of all BBS cases and defines a novel branch of the type II chaperonin superfamily

AA Sequence

MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESLDLTSAVGQLL      1 - 70
NEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGLNFCSEEVVSLHVPVHNIFDC     71 - 140
MDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVASQTLTISNLSGRPLKSYELFKPQTKVEADN    141 - 210
NTSRTLKNSLLADTCCRQSILIHSRHFNRTDNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDH    211 - 280
SSMKLVEEAVQLQYQNACVQQGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQ    281 - 350
NQPVRIVLIEGDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSE    351 - 420
RLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLDVVDRNNRIAI    421 - 490
LLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGGAVEFLCLSCLHILAEQSLKK    491 - 560
ENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLSTLLYNTANYSSEFEASTYIQHHLQNATDSG    561 - 630
SPSSYILNEYSKLNSRIFNSDISNKLEQIPRVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQIN    631 - 700
SQELTGFLFL                                                                701 - 710
//

Text Mined References (17)

PMID Year Title
26900326 2016 A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
24611592 2014 Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
22958920 2012 BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.
22500027 2012 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
20827784 2010 Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
20472660 2010 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
20193073 2010 Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes.
20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
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