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 ide... See more...

Aliases for GDAP1 Gene

Aliases for GDAP1 Gene

  • Ganglioside Induced Differentiation Associated Protein 1 2 3 5
  • Ganglioside-Induced Differentiation-Associated Protein 1 3 4
  • Charcot-Marie-Tooth Neuropathy 4A 2 3
  • CMT4 2 3
  • CMTRIA 3
  • CMT4A 3
  • GDAP1 5
  • CMT2K 2

External Ids for GDAP1 Gene

Previous HGNC Symbols for GDAP1 Gene

  • CMT4A

Previous GeneCards Identifiers for GDAP1 Gene

  • GC08P075203
  • GC08P074985
  • GC08P075312
  • GC08P075276
  • GC08P075425
  • GC08P070753
  • GC08P075233

Summaries for GDAP1 Gene

Entrez Gene Summary for GDAP1 Gene

  • 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]

GeneCards Summary for GDAP1 Gene

GDAP1 (Ganglioside Induced Differentiation Associated Protein 1) is a Protein Coding gene. Diseases associated with GDAP1 include Charcot-Marie-Tooth Disease, Type 4A and Charcot-Marie-Tooth Disease, Recessive Intermediate A. Among its related pathways are Guidance Cues and Growth Cone Motility and NgR-p75(NTR)-Mediated Signaling. An important paralog of this gene is GDAP1L1.

UniProtKB/Swiss-Prot Summary for GDAP1 Gene

  • Regulates the mitochondrial network by promoting mitochondrial fission.

Gene Wiki entry for GDAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GDAP1 Gene

Genomics for GDAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GDAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J074349 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 607.2 +29.7 29671 2.8 SP1 CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 SIX5 NFKBIZ KDM1A GDAP1 ENSG00000253596 ENSG00000253341 ENSG00000207417 JPH1 PI15
GH08J074319 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -0.3 -277 4.5 CREB1 CTCF PRDM10 FOXA1 ZIC2 PATZ1 ZNF501 POLR2A ZNF600 ZNF341 JPH1 GDAP1 piR-45325 LY96
GH08J074250 Enhancer 1 Ensembl ENCODE dbSUPER 10.3 -70.4 -70362 1.8 ZNF629 ZNF501 ZNF600 KLF9 TSHZ1 FOS ZSCAN5C JUN JUND FOSL1 JPH1 GDAP1 RF00017-7136 piR-45325 LY96
GH08J074292 Enhancer 0.8 Ensembl dbSUPER 11.7 -26.5 -26529 4.8 IKZF2 EED RUNX3 BCLAF1 CBFB BCL11A NR2F1 JUNB IRF4 BATF piR-45325 JPH1 GDAP1 ENSG00000253596 LY96
GH08J073892 Enhancer 0.9 FANTOM5 Ensembl ENCODE 9.4 -427.7 -427730 1.2 CREB1 HDAC1 CTBP1 USF1 ZNF318 MYNN ATF4 BHLHE40 VEZF1 RAD51 TMEM70 ELOC STAU2 ENSG00000253596 GDAP1 UBE2W ENSG00000286113 LINC01617 piR-57757-006
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GDAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GDAP1

Top Transcription factor binding sites by QIAGEN in the GDAP1 gene promoter:
  • AP-1
  • E4BP4
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2

Genomic Locations for GDAP1 Gene

Genomic Locations for GDAP1 Gene
chr8:74,321,130-74,488,872
(GRCh38/hg38)
Size:
167,743 bases
Orientation:
Plus strand
chr8:75,233,365-75,401,107
(GRCh37/hg19)
Size:
167,743 bases
Orientation:
Plus strand

Genomic View for GDAP1 Gene

Genes around GDAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDAP1 Gene

Proteins for GDAP1 Gene

  • Protein details for GDAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TB36-GDAP1_HUMAN
    Recommended name:
    Ganglioside-induced differentiation-associated protein 1
    Protein Accession:
    Q8TB36
    Secondary Accessions:
    • A8K957
    • E7FJF3
    • E7FJF4

    Protein attributes for GDAP1 Gene

    Size:
    358 amino acids
    Molecular mass:
    41346 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for GDAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GDAP1 Gene

Post-translational modifications for GDAP1 Gene

  • Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys50, Lys172, Lys173, Lys188, Lys190, Lys206, Lys207, and Lys214
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GDAP1 Gene

Domains & Families for GDAP1 Gene

Gene Families for GDAP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for GDAP1 Gene

Suggested Antigen Peptide Sequences for GDAP1 Gene

GenScript: Design optimal peptide antigens:
  • Ganglioside differentiation associated protein 1 (E7FJF3_HUMAN)
  • Ganglioside differentiation associated protein 1 (E7FJF4_HUMAN)
  • Truncated ganglioside differentiation associated protein 1 (E7FJF5_HUMAN)
  • Ganglioside-induced differentiation-associated protein 1 (GDAP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TB36

UniProtKB/Swiss-Prot:

GDAP1_HUMAN :
  • Belongs to the GST superfamily.
Family:
  • Belongs to the GST superfamily.
genes like me logo Genes that share domains with GDAP1: view

Function for GDAP1 Gene

Molecular function for GDAP1 Gene

UniProtKB/Swiss-Prot Function:
Regulates the mitochondrial network by promoting mitochondrial fission.

Phenotypes From GWAS Catalog for GDAP1 Gene

Gene Ontology (GO) - Molecular Function for GDAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with GDAP1: view
genes like me logo Genes that share phenotypes with GDAP1: view

Human Phenotype Ontology for GDAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GDAP1 Gene

MGI Knock Outs for GDAP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDAP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GDAP1 Gene

Localization for GDAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDAP1 Gene

Mitochondrion outer membrane. Multi-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDAP1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 4
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GDAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA,IDA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with GDAP1: view

Pathways & Interactions for GDAP1 Gene

PathCards logo

SuperPathways for GDAP1 Gene

SuperPathway Contained pathways
1 Guidance Cues and Growth Cone Motility
-
2 NgR-p75(NTR)-Mediated Signaling
-
genes like me logo Genes that share pathways with GDAP1: view

Pathways by source for GDAP1 Gene

2 Qiagen pathways for GDAP1 Gene
  • Guidance Cues and Growth Cone Motility
  • NgR-p75(NTR)-Mediated Signaling

SIGNOR curated interactions for GDAP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GDAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IBA,IDA 15772096
GO:0006626 protein targeting to mitochondrion IBA,IMP 15772096
GO:0007005 mitochondrion organization IBA 21873635
GO:0008053 mitochondrial fusion IMP 21753178
GO:0032526 response to retinoic acid IEA --
genes like me logo Genes that share ontologies with GDAP1: view

Drugs & Compounds for GDAP1 Gene

(1) Additional Compounds for GDAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GDAP1: view

Transcripts for GDAP1 Gene

mRNA/cDNA for GDAP1 Gene

6 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDAP1

Alternative Splicing Database (ASD) splice patterns (SP) for GDAP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: -
SP2: - -
SP3:
SP4: -

Relevant External Links for GDAP1 Gene

GeneLoc Exon Structure for
GDAP1

Expression for GDAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GDAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GDAP1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.7) and Brain - Anterior cingulate cortex (BA24) (x4.7).

Protein differential expression in normal tissues from HIPED for GDAP1 Gene

This gene is overexpressed in Brain (19.9), Frontal cortex (19.7), Fetal Brain (10.8), and Retina (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GDAP1 Gene



Protein tissue co-expression partners for GDAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GDAP1

SOURCE GeneReport for Unigene cluster for GDAP1 Gene:

Hs.168950

mRNA Expression by UniProt/SwissProt for GDAP1 Gene:

Q8TB36-GDAP1_HUMAN
Tissue specificity: Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells.

Evidence on tissue expression from TISSUES for GDAP1 Gene

  • Nervous system(4.9)
  • Blood(4.4)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GDAP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GDAP1: view

Orthologs for GDAP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GDAP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GDAP1 30 31
  • 99.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GDAP1 30 31
  • 95.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GDAP1 30 31
  • 93.48 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gdap1 30 17 31
  • 90.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gdap1 30
  • 90.22 (n)
Oppossum
(Monodelphis domestica)
Mammalia GDAP1 31
  • 89 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 58 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves GDAP1 30 31
  • 78.2 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GDAP1 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gdap1 30
  • 74.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii gdap1 30 31
  • 72.19 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG4623 30 31
  • 43.64 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006132 30
  • 40.49 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G77290 30
  • 44.16 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0435500 30
  • 44.16 (n)
Species where no ortholog for GDAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GDAP1 Gene

ENSEMBL:
Gene Tree for GDAP1 (if available)
TreeFam:
Gene Tree for GDAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GDAP1: view image

Paralogs for GDAP1 Gene

(1) SIMAP similar genes for GDAP1 Gene using alignment to 5 proteins:

  • GDAP1_HUMAN
  • E5RGI2_HUMAN
  • E7FJF3_HUMAN
  • E7FJF4_HUMAN
  • E7FJF5_HUMAN
genes like me logo Genes that share paralogs with GDAP1: view

Variants for GDAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GDAP1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
406138 Likely Pathogenic: Charcot-Marie-Tooth disease, type 4A 74,358,344(+) CATTACTTGGACCTTT SPLICE_ACCEPTOR_VARIANT,INITIATIOR_CODON_VARIANT,INTRON_VARIANT
4194 Pathogenic: Neuropathy, axonal, with vocal cord paresis, autosomal recessive 74,364,147(+) G/GA FRAMESHIFT_VARIANT,INTRON_VARIANT
637109 Uncertain Significance: Charcot-Marie-Tooth disease 74,360,263(+) TA/T FRAMESHIFT_VARIANT,INTRON_VARIANT
637110 Uncertain Significance: Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease 74,364,107(+) C/G MISSENSE_VARIANT,INTRON_VARIANT
637111 Uncertain Significance: Charcot-Marie-Tooth disease 74,363,023(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GDAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GDAP1 Gene

Variant ID Type Subtype PubMed ID
nsv1016431 CNV gain 25217958
nsv1032322 CNV gain 25217958

Variation tolerance for GDAP1 Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GDAP1 Gene

Human Gene Mutation Database (HGMD)
GDAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDAP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDAP1 Gene

Disorders for GDAP1 Gene

MalaCards: The human disease database

(71) MalaCards diseases for GDAP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4a
  • cmt4a
charcot-marie-tooth disease, recessive intermediate a
  • cmtria
charcot-marie-tooth disease, axonal, type 2k
  • charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive
charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • cmt2 with vocal cord paresis, autosomal recessive
polyneuropathy
  • polyneuropathies
- elite association - COSMIC cancer census association via MalaCards
Search GDAP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GDAP1_HUMAN
  • Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence. {ECO:0000269 PubMed:11743579, ECO:0000269 PubMed:12601710, ECO:0000269 PubMed:15772096, ECO:0000269 PubMed:16172208}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706]: A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. {ECO:0000269 PubMed:12868504, ECO:0000269 PubMed:16172208}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:15772096, ECO:0000269 PubMed:20685671, ECO:0000269 PubMed:22206013, ECO:0000269 PubMed:26525999, ECO:0000269 PubMed:28244113}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, recessive, intermediate type, A (CMTRIA) [MIM:608340]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269 PubMed:12499475, ECO:0000269 PubMed:12566285, ECO:0000269 PubMed:15772096, ECO:0000269 PubMed:16172208}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GDAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GDAP1: view

No data available for Genatlas for GDAP1 Gene

Publications for GDAP1 Gene

  1. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. (PMID: 12566285) Senderek J … Schröder JM (Brain : a journal of neurology 2003) 3 4 23 41
  2. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. (PMID: 11743579) Baxter RV … Vance JM (Nature genetics 2002) 2 3 4 23
  3. Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase. (PMID: 16857173) Shield AJ … Board PG (Biochemical and biophysical research communications 2006) 3 4 23
  4. Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. (PMID: 15019704) Stojkovic T … Vermersch P (Neuromuscular disorders : NMD 2004) 3 23 41
  5. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. (PMID: 12868504) Azzedine H … Dubourg O (Neuromuscular disorders : NMD 2003) 3 4 23

Products for GDAP1 Gene

Sources for GDAP1 Gene