LP71433-4
OTOF gene
Active
Description
The OTOF gene (otoferlin) [HGNC Gene ID:8515] is located on chromosome 2p23.1. Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:9381] 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
- OTOF gene
- Part Display Name
- OTOF gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- OTOF 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) | OTOF 基因 Synonyms: AUNB1; |
| et-EE | Estonian (Estonia) | OTOF geen |
| es-ES | Spanish (Spain) | Gen OTOF |
| it-IT | Italian (Italy) | OTOF, gene Synonyms: Gene OTOF |
| tr-TR | Turkish (Turkey) | OTOF geni |
| ru-RU | Russian (Russian Federation) | OTOF ген |
| nl-NL | Dutch (Netherlands) | OTOF-gen Synonyms: OTOF gen |
| fr-FR | French (France) | OTOF gène |
| pl-PL | Polish (Poland) | OTOF gen Synonyms: Gen OTOF |
| el-GR | Greek (Greece) | Γονίδιο OTOF Synonyms: Γονίδιο OTOF |
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://