LP66645-0
POMT2 gene
Active
Description
The POMT2 gene (protein-O-mannosyltransferase 2) [HGNC Gene ID:19743] is located on chromosome 14q24. The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008] [NCBI Gene ID:29954] 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
- POMT2 gene
- Part Display Name
- POMT2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-02-05
- Construct for LOINC Short Name
- POMT2 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) | POMT2 基因 Synonyms: DKFZp686G10254; |
| et-EE | Estonian (Estonia) | POMT2 geen |
| es-ES | Spanish (Spain) | Gen POMT2 |
| it-IT | Italian (Italy) | POMT2, gene Synonyms: Gene POMT2 |
| tr-TR | Turkish (Turkey) | POMT2 geni |
| ru-RU | Russian (Russian Federation) | POMT2 ген |
| nl-NL | Dutch (Netherlands) | POMT2-gen Synonyms: POMT2 gen |
| fr-FR | French (France) | POMT2 gène |
| pl-PL | Polish (Poland) | POMT2 gen Synonyms: Gen POMT2 |
| el-GR | Greek (Greece) | Γονίδιο POMT2 Synonyms: Γονίδιο POMT2 |
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://