LP71438-3
TRAPPC2 gene
Active
Description
The TRAPPC2 gene (trafficking protein particle complex 2) [HGNC Gene ID:23068] is located on chromosome Xp22. The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] [NCBI Gene ID:6399] 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
- TRAPPC2 gene
- Part Display Name
- TRAPPC2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- TRAPPC2 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) | TRAPPC2 基因 Synonyms: MIP2A; |
| et-EE | Estonian (Estonia) | TRAPPC2 geen |
| es-ES | Spanish (Spain) | Gen TRAPPC2 |
| it-IT | Italian (Italy) | TRAPPC2, gene Synonyms: Gene TRAPPC2 |
| tr-TR | Turkish (Turkey) | TRAPPC2 geni |
| ru-RU | Russian (Russian Federation) | TRAPPC2 ген |
| nl-NL | Dutch (Netherlands) | TRAPPC2-gen Synonyms: TRAPPC2 gen |
| fr-FR | French (France) | TRAPPC2 gène |
| pl-PL | Polish (Poland) | TRAPPC2 gen Synonyms: Gen TRAPPC2 |
| el-GR | Greek (Greece) | Γονίδιο TRAPPC2 Synonyms: Γονίδιο TRAPPC2 |
LOINC Copyright
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