BBS5

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BBS5
Identifiers
Aliases BBS5
External IDs MGI: 1919819 HomoloGene: 12471 GeneCards: BBS5
RNA expression pattern
PBB GE BBS5 gnf1h08038 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152384

NM_028284

RefSeq (protein)

NP_689597

NP_082560.1
NP_082560

Location (UCSC) Chr 2: 169.48 – 169.51 Mb Chr 2: 69.65 – 69.67 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Bardet-Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene.[3][4][5]

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS (Mar 1999). "Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus". Genomics. 55 (1): 2–9. doi:10.1006/geno.1998.5626. PMID 9888993. 
  4. ^ Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS (Apr 1999). "A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31". Am J Hum Genet. 64 (3): 900–4. doi:10.1086/302301. PMC 1377810Freely accessible. PMID 10053027. 
  5. ^ a b "Entrez Gene: BBS5 Bardet-Biedl syndrome 5". 

External links[edit]

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