BBS10

Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.^[5]

BBS10
Identifiers
Aliases	BBS10, C12orf58, Bardet-Biedl syndrome 10
External IDs	OMIM: 610148; MGI: 1919019; HomoloGene: 49781; GeneCards: BBS10; OMA:BBS10 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q21.2 Start 76,344,474 bp[1] End 76,348,415 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 D1 Start 111,134,540 bp[2] End 111,137,588 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon endothelial cell ventricular zone ganglionic eminence Epithelium of choroid plexus retinal pigment epithelium Brodmann area 23 germinal epithelium islet of Langerhans bronchial epithelial cell Top expressed in spermatocyte otolith organ spermatid utricle genital tubercle lumbar spinal ganglion seminiferous tubule zygote tail of embryo oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding protein binding ATP binding Cellular component cell projection cilium Biological process photoreceptor cell maintenance retina homeostasis regulation of protein-containing complex assembly chaperone-mediated protein complex assembly response to stimulus visual perception non-motile cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79738 71769 Ensembl ENSG00000179941 ENSMUSG00000035759 UniProt Q8TAM1 Q9DBI2 RefSeq (mRNA) NM_024685 NM_027914 RefSeq (protein) NP_078961 NP_082190 Location (UCSC) Chr 12: 76.34 – 76.35 Mb Chr 10: 111.13 – 111.14 Mb PubMed search [3] [4]
Wikidata
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Function

The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes.^[6][7]

Clinical significance

Mutations in this gene are associated with the Bardet–Biedl syndrome.^[5]