Trisha Shetty (Editor)

BBS2

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Species
  
Entrez
  
583

Human
  
Ensembl
  
ENSG00000125124

Aliases
  
BBS2, BBS, RP74, Bardet-Biedl syndrome 2

External IDs
  
MGI: 2135267 HomoloGene: 12122 GeneCards: BBS2

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

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.

References

BBS2 Wikipedia


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