BBS2

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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RefSeq (protein)

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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]

References

  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. 2.0 2.1 "Entrez Gene: BBS2 Bardet-Biedl syndrome 2".

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Further reading




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