LP36460-1
UNC13D gene
Active
Description
The UNC13D gene (unc-13 homolog D (C. elegans)) [HGNC Gene ID:23147] is located on chromosome 17q25.1. This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008] [NCBI Gene ID:201294] 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
- UNC13D gene
- Part Display Name
- UNC13D gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-01-05
- Construct for LOINC Short Name
- UNC13D gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | UNC13D 基因 Synonyms: FHL3; |
| et-EE | Estonian (Estonia) | UNC13D geen |
| es-ES | Spanish (Spain) | Gen UNC13D |
| it-IT | Italian (Italy) | UNC13D, gene Synonyms: Gene UNC13D |
| tr-TR | Turkish (Turkey) | UNC13D geni |
| ru-RU | Russian (Russian Federation) | UNC13D ген |
| nl-NL | Dutch (Netherlands) | UNC13D-gen Synonyms: UNC13D gen |
| fr-FR | French (France) | UNC13D gène |
| pl-PL | Polish (Poland) | UNC13D gen Synonyms: Gen UNC13D |
| el-GR | Greek (Greece) | Γονίδιο UNC13D Synonyms: Γονίδιο UNC13D |
LOINC Copyright
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