Log In

Description

The POMT1 gene (protein-O-mannosyltransferase 1) [HGNC Gene ID:9202] is located on chromosome 9q34.1. The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 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) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] [NCBI Gene ID:10585] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline 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
POMT1 gene
Part Display Name
POMT1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2008-02-05
Construct for LOINC Short Name
POMT1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP66644-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP66644-3

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)POMT1 基因
Synonyms: FLJ37239;LGMD2K;RT;OTTHUMP00000022405;OTTHUMP00000022406;OTTHUMP00000022407;protein-O-mannosyltransferase 1;蛋白-O-甘露糖转移酶 1;蛋白质-O-甘露糖转移酶 1;蛋白-O-甘露糖基转移酶 1
et-EEEstonian (Estonia)POMT1 geen
es-ESSpanish (Spain)Gen POMT1
it-ITItalian (Italy)POMT1, gene
Synonyms: Gene POMT1
tr-TRTurkish (Turkey)POMT1 geni
ru-RURussian (Russian Federation)POMT1 ген
nl-NLDutch (Netherlands)POMT1-gen
Synonyms: POMT1 gen
fr-FRFrench (France)POMT1 gène
pl-PLPolish (Poland)POMT1 gen
Synonyms: Gen POMT1
el-GRGreek (Greece)Γονίδιο POMT1
Synonyms: Γονίδιο POMT1