Gene: BBS5

Alternate names for this Gene: -

Gene Summary: This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: Bardet-Biedl syndrome 5

Type of Gene: protein-coding

rs121908581 in BBS5 gene and BARDET-BIEDL SYNDROME 5 PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 18203199 2008 Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

PMID 15137946 2004 Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

rs1054138918 in BBS5 gene and Bardet-Biedl Syndrome PMID 15137946 2004 Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

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

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

PMID 26325687 2015 The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.

rs137853921 in BBS5 gene and Cone Dystrophy PMID 15137946 2004 Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.