LP62802-1
BBS2 gene
Active
Description
The BBS2 gene (Bardet-Biedl syndrome 2) [HGNC Gene ID:967] is located on chromosome 16q21. 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 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 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 forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014] [NCBI Gene ID:583] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- BBS2 gene
- Part Display Name
- BBS2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-03-15
- Construct for LOINC Short Name
- BBS2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | BBS2 基因 Synonyms: Bardet-Biedl 综合征 2型; |
| et-EE | Estonian (Estonia) | BBS2 geen |
| es-ES | Spanish (Spain) | Gen BBS2 |
| it-IT | Italian (Italy) | BBS2, gene Synonyms: Gene BBS2 |
| tr-TR | Turkish (Turkey) | BBS2 geni |
| ru-RU | Russian (Russian Federation) | BBS2 ген |
| nl-NL | Dutch (Netherlands) | BBS2-gen Synonyms: BBS2 gen |
| fr-FR | French (France) | BBS2 gène |
| pl-PL | Polish (Poland) | BBS2 gen Synonyms: Gen BBS2 |
| el-GR | Greek (Greece) | Γονίδιο BBS2 Synonyms: Γονίδιο BBS2 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://