Recombinant Human Bardet-Biedl syndrome 4 protein (BBS4)

1. a novel nonsense mutation in BBS4 gene in a Chinese family with Bardet-Biedl syndrome. This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein; a rare heterozygous missense SNP in BBS10 gene was also detected PMID: 25533820
2. Results present evidence of a role for BBS4 in mediating the phosphorylation of TrkB by BDNF and its activation requires a proper localization to the ciliary axoneme. PMID: 24867303
3. Findings indicate that Bbs proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA levels. PMID: 23716571
4. Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. PMID: 23554981
5. A novel missense mutation in BBS4 that co-segregates with Leber Congenital Amaurosis was identified in a consanguineous family from Saudi Arabia. PMID: 22219648
6. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Evaluated the spectrum of mutations in the recently identified BBS4 gene with a combination of haplotype analysis and mutation screening. PMID: 12016587
7. The phenotype of patients with BBS4 mutations consists of severe retinitis pigmentosa, variable obesity, brachydactyly with variable polydactyly, small or missing teeth, genital hypoplasia, and cardiovascular disease. PMID: 12365916
8. A novel Frameshift Mutation between the splice donor site and exon 5 of BBS4 in a Bardet-Biedl syndrome patient and a novel heterozygous base substitution in both an affected mother and her affected daughter. PMID: 12872256

Show More

Hide All

HGNC: 969

OMIM: 600374

KEGG: hsa:585

STRING: 9606.ENSP00000268057

UniGene: Hs.208681