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

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

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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163093Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063145Ensembl, 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. ^ a b "Entrez Gene: BBS5 Bardet–Biedl syndrome 5". Archived from the original on 2010-03-07. Retrieved 2017-08-30.
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Further reading

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