Version 2.78

Description

The GDAP1 gene (ganglioside induced differentiation associated protein 1) [HGNC Gene ID:15968] is located on chromosome 8q21.11. This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012] [NCBI Gene ID:54332] 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 Display Name
GDAP1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-12-19
Construct for LOINC Short Name
GDAP1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP36428-8
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP36428-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) GDAP1 基因
Synonyms: CMT2G;CMT2H;CMT2K;CMT4A;神经节苷脂诱导型分化相关蛋白 1 基因;神经节苷脂诱导型分化相关蛋白 1（Ganglioside-induced differentiation-associated protein 1，GDAP1）;神经节苷脂诱导性分化相关蛋白 1 基因;神经节苷酯诱导分化相关蛋白 1 基因
et-EE Estonian (Estonia) GDAP1 geen
es-ES Spanish (Spain) Gen GDAP1
it-IT Italian (Italy) GDAP1, gene
Synonyms: Gene GDAP1
tr-TR Turkish (Turkey) GDAP1 geni
ru-RU Russian (Russian Federation) GDAP1 ген
nl-NL Dutch (Netherlands) GDAP1-gen
Synonyms: GDAP1 gen