Biology:BBS4
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Bardet–Biedl syndrome 4 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
BBS4 has been shown to interact with DCTN1.[4]
References
- ↑ "Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Human Molecular Genetics 4 (1): 9–13. Jan 1995. doi:10.1093/hmg/4.1.9. PMID 7711739.
- ↑ "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4". Nature Genetics 28 (2): 188–91. Jun 2001. doi:10.1038/88925. PMID 11381270.
- ↑ 3.0 3.1 "Entrez Gene: BBS4 Bardet-Biedl syndrome 4". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=585.
- ↑ "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. May 2004. doi:10.1038/ng1352. PMID 15107855.
Further reading
- "[Ocular manifestations in orbital fractures]". Klinika Oczna 45 (6): 655–9. June 1975. PMID 1138127.
- "Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21". Genomics 41 (1): 93–9. Apr 1997. doi:10.1006/geno.1997.4613. PMID 9126487.
- "BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance". American Journal of Human Genetics 71 (1): 22–9. Jul 2002. doi:10.1086/341031. PMID 12016587.
- "The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene". Archives of Ophthalmology 120 (10): 1364–7. Oct 2002. doi:10.1001/archopht.120.10.1364. PMID 12365916.
- "Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique". Human Mutation 22 (2): 151–7. August 2003. doi:10.1002/humu.10241. PMID 12872256.
- "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. May 2004. doi:10.1038/ng1352. PMID 15107855.
- "Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4)". DNA Sequence 15 (3): 213–8. June 2004. doi:10.1080/10425170410001679165. PMID 15497446.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. Oct 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
External links
- GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
- Human BBS4 genome location and BBS4 gene details page in the UCSC Genome Browser.
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