LP208432-7
POMGNT1 gene
Active
Description
The POMGNT1 gene (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) [HGNC Gene ID:19139] is located on chromosome 1p34.1. This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014] [NCBI Gene ID:55624] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- POMGNT1 gene
- Part Display Name
- POMGNT1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- POMGNT1
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | POMGNT1 基因 Synonyms: 蛋白 O-连接甘露糖 N-乙酰葡糖氨基转移酶 1 (Beta 1,2-); |
| es-ES | Spanish (Spain) | Gen POMGNT1 |
| it-IT | Italian (Italy) | POMGNT1, gene Synonyms: Gene POMGNT1 |
| nl-NL | Dutch (Netherlands) | POMGNT1-gen Synonyms: POMGNT1 gen |
| fr-FR | French (France) | POMGNT1 gène |
| pl-PL | Polish (Poland) | POMGNT1 gen Synonyms: Gen POMGNT1 |
| el-GR | Greek (Greece) | Γονίδιο POMGNT1 Synonyms: Γονίδιο POMGNT1 |
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://