BBS10 Bardet-Biedl syndrome 10
Gene ID: 79738, updated on 5-Mar-2024Gene type: protein coding
Also known as: C12orf58
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- Go to complete Gene record for BBS10
- Go to Variation Viewer for BBS10 variants
Summary
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their 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 is likely not a ciliary protein but rather 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. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Bardet-Biedl syndrome 10 | See labs |
Genomic context
- Location:
- 12q21.2
- Sequence:
- Chromosome: 12; NC_000012.12 (76344474..76348415, complement)
- Total number of exons:
- 2
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for BBS10 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BBS10 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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