BBS5
Identifiers
AliasesBBS5, Bardet-Biedl syndrome 5
External IDsOMIM: 603650 MGI: 1919819 HomoloGene: 12471 GeneCards: BBS5
Orthologs
SpeciesHumanMouse
Entrez

129880

72569

Ensembl

ENSG00000163093

ENSMUSG00000063145

UniProt

Q8N3I7

Q9CZQ9

RefSeq (mRNA)

NM_152384

NM_028284
NM_001362706

RefSeq (protein)

NP_689597

NP_082560
NP_001349635

Location (UCSC)Chr 2: 169.48 – 169.51 MbChr 2: 69.48 – 69.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bardet–Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene.[5][6][7]

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.[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163093 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000063145 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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 1377810. PMID 10053027.
  7. 1 2 "Entrez Gene: BBS5 Bardet–Biedl syndrome 5".

Further reading


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