BBS2

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Bardet-Biedl syndrome 2
Identifiers
Symbols BBS2 ; BBS
External IDs OMIM606151 MGI2135267 HomoloGene12122 GeneCards: BBS2 Gene
Orthologs
Species Human Mouse
Entrez 583 67378
Ensembl ENSG00000125124 ENSMUSG00000031755
UniProt Q9BXC9 Q9CWF6
RefSeq (mRNA) NM_031885 NM_026116
RefSeq (protein) NP_114091 NP_080392
Location (UCSC) Chr 16:
56.5 – 56.55 Mb
Chr 8:
94.07 – 94.1 Mb
PubMed search [1] [2]

Bardet-Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.[1][2]

This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.[2]

External links[edit]

References[edit]

  1. ^ Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC (Apr 2001). "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)". Hum Mol Genet 10 (8): 865–74. doi:10.1093/hmg/10.8.865. PMID 11285252. 
  2. ^ a b "Entrez Gene: BBS2 Bardet-Biedl syndrome 2". 

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