BBS4

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Bardet-Biedl syndrome 4
Identifiers
Symbol BBS4
External IDs OMIM600374 MGI2143311 HomoloGene13197 GeneCards: BBS4 Gene
RNA expression pattern
PBB GE BBS4 212744 at tn.png
PBB GE BBS4 212745 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 585 102774
Ensembl ENSG00000140463 ENSMUSG00000025235
UniProt Q96RK4 Q8C1Z7
RefSeq (mRNA) NM_001252678 NM_175325
RefSeq (protein) NP_001239607 NP_780534
Location (UCSC) Chr 15:
72.69 – 72.74 Mb
Chr 9:
59.32 – 59.35 Mb
PubMed search [1] [2]

Bardet-Biedl syndrome 4 protein is a protein that in humans is encoded by the BBS4 gene.[1][2][3]

This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.[3]

Interactions[edit]

BBS4 has been shown to interact with DCTN1.[4]

References[edit]

  1. ^ Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC (May 1995). "Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Hum Mol Genet 4 (1): 9–13. doi:10.1093/hmg/4.1.9. PMID 7711739. 
  2. ^ Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC (May 2001). "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4". Nat Genet 28 (2): 188–91. doi:10.1038/88925. PMID 11381270. 
  3. ^ a b "Entrez Gene: BBS4 Bardet-Biedl syndrome 4". 
  4. ^ Kim, Jun Chul; Badano Jose L, Sibold Sonja, Esmail Muneer A, Hill Josephine, Hoskins Bethan E, Leitch Carmen C, Venner Kerrie, Ansley Stephen J, Ross Alison J, Leroux Michel R, Katsanis Nicholas, Beales Philip L (May 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nat. Genet. (United States) 36 (5): 462–70. doi:10.1038/ng1352. ISSN 1061-4036. PMID 15107855. 

External links[edit]

Further reading[edit]