Langbahn Team – Weltmeisterschaft

BBS4

BBS4
Identifiers
AliasesBBS4, Bardet-Biedl syndrome 4
External IDsOMIM: 600374; MGI: 2143311; HomoloGene: 13197; GeneCards: BBS4; OMA:BBS4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

585

102774

Ensembl

ENSG00000140463

ENSMUSG00000025235

UniProt

Q96RK4

Q8C1Z7

RefSeq (mRNA)

NM_001252678
NM_033028
NM_001320665

NM_175325
NM_001359558

RefSeq (protein)

NP_001239607
NP_001307594
NP_149017

NP_780534
NP_001346487

Location (UCSC)Chr 15: 72.69 – 72.74 MbChr 9: 59.23 – 59.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.[5][6][7]

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.[7]

Interactions

BBS4 has been shown to interact with DCTN1.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140463 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025235 – 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. ^ Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC (Jan 1995). "Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Human Molecular Genetics. 4 (1): 9–13. doi:10.1093/hmg/4.1.9. PMID 7711739.
  6. ^ 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 (Jun 2001). "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4". Nature Genetics. 28 (2): 188–91. doi:10.1038/88925. PMID 11381270. S2CID 9778432.
  7. ^ a b "Entrez Gene: BBS4 Bardet-Biedl syndrome 4".
  8. ^ Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL (May 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nature Genetics. 36 (5): 462–70. doi:10.1038/ng1352. PMID 15107855.

Further reading


Quelle: https://en.wikipedia.org/wiki/BBS4