BBS2

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BBS2
Identifiers
Aliases BBS2, BBS, RP74, Bardet-Biedl syndrome 2
External IDs MGI: 2135267 HomoloGene: 12122 GeneCards: BBS2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031885

NM_026116

RefSeq (protein)

NP_114091

NP_080392.1
NP_080392

Location (UCSC) Chr 16: 56.47 – 56.52 Mb Chr 8: 94.07 – 94.1 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Bardet-Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.[3][4]

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.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: BBS2 Bardet-Biedl syndrome 2". 

External links[edit]

Further reading[edit]