LP208413-7
BBS10 gene
Active
Description
The BBS10 gene (Bardet-Biedl syndrome 10) [HGNC Gene ID:26291] is located on chromosome 12q21.2. 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 mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members are 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] [NCBI Gene ID:79738] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- BBS10 gene
- Part Display Name
- BBS10 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- BBS10
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP208413-7
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | BBS10, gene Synonyms: Gene BBS10 |
| zh-CN | Chinese (China) | BBS10 基因 Synonyms: Bardet-Biedl 综合征 10; |
| es-ES | Spanish (Spain) | Gen BBS10 |
| nl-NL | Dutch (Netherlands) | BBS10-gen Synonyms: BBS10 gen |
| el-GR | Greek (Greece) | Γονίδιο BBS10 Synonyms: Γονίδιο BBS10 |
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