The GDAP1 gene homepage

A database from the MITOchondrial DYNamics variation portal.
This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol GDAP1
Gene name ganglioside induced differentiation associated protein 1
Chromosome 8
Chromosomal band q21.11
Imprinted Unknown
Genomic reference LRG_244
Transcript reference NM_018972.2
Exon/intron information NM_018972.2 exon/intron table
Associated with diseases CMT-2K, CMT-4A, CMTRIA, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Julien Cassereau
Total number of public variants reported 120
Unique public DNA variants reported 76
Individuals with public variants 91
Hidden variants 1
Download all this gene's data Download all data
Notes A database from the MITOchondrial DYNamics variation portal and the gene variant databases from the: Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
GDAP1, which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 variants are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the variants have been found in only a few unrelated patients.
Date created April 29, 2010
Date last updated June 24, 2020
Version GDAP1:200624

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_018972.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/GDAP1
External URL Mitodyn.org portal
IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase
HGNC 15968
Entrez Gene 54332
PubMed articles GDAP1
OMIM - Gene 606598
OMIM - Diseases CMT-2K (Charcot-Marie-Tooth disease, type 2K (CMT-2K))
CMT-4A (Charcot-Marie-Tooth disease, type 4A (CMT-4A))
CMTRIA (Charcot-Marie-Tooth disease, recessive intermediate A (CMTRIA))
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
HGMD GDAP1
GeneCards GDAP1
GeneTests GDAP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008426 8 ganglioside-induced differentiation-associated protein 1, transcript variant 1 NM_018972.2 NP_061845.2 120


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