Gene: BBS4

Alternate names for this Gene: -

Gene Summary: This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein 'BBSome' complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 15

Location in Chromosome : 15q24.1

Description of this Gene: Bardet-Biedl syndrome 4

Type of Gene: protein-coding

rs1465437164 in BBS4 gene and Bardet-Biedl Syndrome PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 11381270 2001 Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.

PMID 24849935 2014 Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

PMID 19402160 2009 BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs113994191 in BBS4 gene and Bardet-Biedl syndrome 4 (disorder) PMID 26518167 2015 Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 12872256 2003 Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

PMID 11381270 2001 Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 15666242 2005 Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

PMID 12016587 2002 BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

rs2277598 in BBS4 gene and Body mass index PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs730180 in BBS4 gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs11072384 in BBS4 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.