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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GDAP1 Gene

protein-coding   GIFtS: 61
GCID: GC08P075276

Ganglioside Induced Differentiation Associated Protein 1

(Previous name: Charcot-Marie-Tooth neuropathy 4A)
(Previous symbol: CMT4A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ganglioside Induced Differentiation Associated Protein 11 2     CMT42
CMT4A1 2 5     Ganglioside Differentiation Associated Protein 12
Charcot-Marie-Tooth Neuropathy 4A1 2     Ganglioside-Induced Differentiation-Associated Protein 12
CMTRIA2 5     CMT2K5

External Ids:    HGNC: 159681   Entrez Gene: 543322   Ensembl: ENSG000001043817   OMIM: 6065985   UniProtKB: Q8TB363   

Export aliases for GDAP1 gene to outside databases

Previous GC identifers: GC08P074315 GC08P075203 GC08P074985 GC08P075312 GC08P075425 GC08P070753


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 neuropathy type 4a, and charcot-marie-tooth disease type 2h. An important paralog of this gene is GDAP1L1.

UniProtKB/Swiss-Prot: GDAP1_HUMAN, Q8TB36
Function: Regulates the mitochondrial network by promoting mitochondrial fission

Gene Wiki entry for GDAP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GDAP1 gene promoter:
         AP-1   NRSF form 1   Nkx2-5   E4BP4   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGDAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GDAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GDAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21.11   Ensembl cytogenetic band:  8q21.11   HGNC cytogenetic band: 8q13.3

GDAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GDAP1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P075276:  view genomic region     (about GC identifiers)

Start:
75,233,365 bp from pter      End:
75,401,107 bp from pter
Size:
167,743 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GDAP1_HUMAN, Q8TB36 (See protein sequence)
Recommended Name: Ganglioside-induced differentiation-associated protein 1  
Size: 358 amino acids; 41346 Da
Subunit: Homodimer
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm (By similarity)
Caution: While belonging to the GST superfamily, it lacks glutathione transferase activity
Alternative splicing: 2 isoforms:  Q8TB36-1   Q8TB36-2   

Explore the universe of human proteins at neXtProt for GDAP1: NX_Q8TB36

Explore proteomics data for GDAP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TB36

  • GDAP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GDAP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035808.1  NP_061845.2  

    ENSEMBL proteins: 
     ENSP00000220822   ENSP00000417006   ENSP00000430136  

    Human Recombinant Protein Products for GDAP1: 
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    Cloud-Clone Corp. Proteins for GDAP1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031307integral to mitochondrial outer membrane IDA15772096

    GDAP1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for GDAP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR012336 Thioredoxin-like_fold
     IPR017933 Glutathione_S_Trfase/Cl_chnl_C
     IPR004045 Glutathione_S-Trfase_N
     IPR010987 Glutathione-S-Trfase_C-like

    Graphical View of Domain Structure for InterPro Entry Q8TB36

    ProtoNet protein and cluster: Q8TB36

    1 Blocks protein domain: IPB004045 Glutathione S-transferase

    UniProtKB/Swiss-Prot: GDAP1_HUMAN, Q8TB36
    Similarity: Belongs to the GST superfamily
    Similarity: Contains 1 GST C-terminal domain
    Similarity: Contains 1 GST N-terminal domain


    GDAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GDAP1_HUMAN, Q8TB36
    Function: Regulates the mitochondrial network by promoting mitochondrial fission

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    GDAP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GDAP1:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GDAP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GDAP1

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GDAP1 

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    miRTarBase miRNAs that target GDAP1:
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    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate GDAP1 (see all 22):
    hsa-miR-140-5p hsa-miR-320a hsa-miR-766 hsa-miR-650 hsa-miR-515-3p hsa-miR-548c-3p hsa-miR-3612 hsa-miR-331-5p
    SwitchGear 3'UTR luciferase reporter plasmidGDAP1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GDAP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1NgR-p75(NTR)-Mediated Signaling
    NgR-p75(NTR)-Mediated Signaling
    2Guidance Cues and Growth Cone Motility
    Guidance Cues and Growth Cone Motility

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GDAP1
        Guidance Cues and Growth Cone Motility
    NgR-p75(NTR)-Mediated Signaling


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GDAP1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/12 Interacting proteins for GDAP1 (Q8TB363 ENSP000002208224) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000232575P074373, ENSP000004100714I2D: score=1 STRING: ENSP00000410071
    ENSG00000183311P074373I2D: score=1 
    ENSG00000224156P074373I2D: score=1 
    ENSG00000227739P074373I2D: score=1 
    ENSG00000229684P074373I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000266mitochondrial fission IDA15772096
    GO:0006626protein targeting to mitochondrion IMP15772096
    GO:0032526response to retinoic acid IEA--

    GDAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GDAP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GDAP1

    1 Novoseek inferred chemical compound relationship for GDAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gsts 47.5 3 14595091 (2), 16857173 (1)

    Search CenterWatch for drugs/clinical trials and news about GDAP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GDAP1 gene (2 alternative transcripts): 
    NM_001040875.2  NM_018972.2  

    Unigene Cluster for GDAP1:

    Ganglioside induced differentiation associated protein 1
    Hs.168950  [show with all ESTs]
    Unigene Representative Sequence: NM_018972
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521096 ENST00000520797 ENST00000220822(uc003yah.3 uc011lfj.2 uc003yai.3)
    ENST00000434412 ENST00000523640 ENST00000524366 ENST00000522568 ENST00000524195

    miRNA
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    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate GDAP1 (see all 22):
    hsa-miR-140-5p hsa-miR-320a hsa-miR-766 hsa-miR-650 hsa-miR-515-3p hsa-miR-548c-3p hsa-miR-3612 hsa-miR-331-5p
    SwitchGear 3'UTR luciferase reporter plasmidGDAP1 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GDAP1
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                         Customized lentivirus expression plasmids for stable overexpression of GDAP1 
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    Additional mRNA sequence: 

    AB551556.1 AB551557.1 AB551558.1 AK292572.1 AK295594.1 AL110252.1 BC024939.1 BC035450.1 
    BC036496.1 NR_046346.1 Y17849.1 

    5 DOTS entries:

    DT.100763465  DT.101968572  DT.91696465  DT.215686  DT.95278066 

    24/119 AceView cDNA sequences (see all 119):

    BE552062 AI339369 Z40623 AI640234 W93776 AI474423 BE552078 AA993190 
    BF436995 BC024939 Z44965 Z40710 BQ231926 BQ717308 BG655044 BU854054 
    AW190038 AI565223 N46261 AL521186 BE075192 BG911277 CB158104 BX328920 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GDAP1    About this scheme

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


    ECgene alternative splicing isoforms for GDAP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GDAP1 expression in normal human tissues (normalized intensities)      GDAP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTATCGGTG
    GDAP1 Expression
    About this image


    GDAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Somatic Cells Ovigerous Cord
             Secondary follicles
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Brain (Nervous System)
             postcentral gyrus   

    See GDAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GDAP1

    SOURCE GeneReport for Unigene cluster: Hs.168950

    UniProtKB/Swiss-Prot: GDAP1_HUMAN, Q8TB36
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDAP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GDAP1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gdap11 , 5 ganglioside-induced differentiation-associated-protein more1, 5 90.88(n)1
    93.85(a)1
      1 (5.21 cM)5
    145451  NM_010267.31  NP_034397.11 
     171453625 
    chicken
    (Gallus gallus)
    Aves GDAP11 ganglioside-induced differentiation-associated protein more 78.49(n)
    85.34(a)
      420191  XM_418303.3  XP_418303.3 
    lizard
    (Anolis carolinensis)
    Reptilia GDAP16
    Uncharacterized protein
    82(a)
    1 ↔ 1
    4(33976960-33991691)
    zebrafish
    (Danio rerio)
    Actinopterygii gdap11 ganglioside-induced differentiation-associated protein more 72.19(n)
    79.06(a)
      553702  NM_001020675.1  NP_001018511.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG46231 CG4623 44.33(n)
    31.58(a)
      38597  NM_139688.3  NP_647945.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G772901 glutathione S-transferase-like protein 43.04(n)
    30.8(a)
      844065  NM_106378.2  NP_177853.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04355001 hypothetical protein 44.25(n)
    28.45(a)
      4335902  NM_001059383.1  NP_001052848.1 


    ENSEMBL Gene Tree for GDAP1 (if available)
    TreeFam Gene Tree for GDAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GDAP1 gene
    GDAP1L12  
    1 SIMAP similar gene for GDAP1 using alignment to 5 protein entries:     GDAP1_HUMAN (see all proteins):
    GDAP1L1

    GDAP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/485 SNPs in GDAP1 are shown (see all 485)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0171874
    Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV)4--see VAR_0171872 R Q mis40--------
    VAR_0670874
    Charcot-Marie-Tooth disease 2K (CMT2K)4--see VAR_0670872 R H mis40--------
    VAR_0670864
    Charcot-Marie-Tooth disease 2K (CMT2K)4--see VAR_0670862 H R mis40--------
    VAR_0171854
    Charcot-Marie-Tooth disease 4A (CMT4A)4--see VAR_0171852 R H mis40--------
    VAR_0171844
    Charcot-Marie-Tooth disease 4A (CMT4A)4--see VAR_0171842 R Q mis40--------
    rs289379061,2,4
    CCharcot-Marie-Tooth disease 4A (CMT4A)4 pathogenic175276369(+) ACGAGC/TGTGTC 5 R C mis1 ese30--------
    rs1048940781,2
    Cpathogenic175272419(+) ACCCAC/TGGGTA 5 R W mis10--------
    rs1048940791,2
    Cpathogenic175272530(+) ATGCAA/CCTACA 5 T P mis10--------
    rs1048940761,2
    Cpathogenic175272543(+) GATTCA/GTAGTA 5 H R mis10--------
    rs1048940771,2
    Cpathogenic175274121(+) CAGGCC/TAAATT 5 Q * stg10--------

    HapMap Linkage Disequilibrium report for GDAP1 (75233365 - 75401107 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GDAP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv891014CNV Loss21882294


    Human Gene Mutation Database (HGMD): GDAP1

    Locus Specific Mutation Databases (LSDB): GDAP1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606598   
    OMIM disorders: 214400  607706  607831  608340  
    UniProtKB/Swiss-Prot: GDAP1_HUMAN, Q8TB36
  • 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. 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. 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 regeneration in the absence of
    obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle
    weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. 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. 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 20/26 diseases for GDAP1 (see all 26):    About MalaCards
    charcot-marie-tooth neuropathy type 4a    charcot-marie-tooth disease type 2h    gdap1-related intermediate charcot-marie-tooth neuropathy    charcot-marie-tooth disease type 2g
    charcot-marie-tooth disease type 2k    charcot-marie-tooth neuropathy type 2h/2k    charcot-marie-tooth disease, axonal, with vocal cord paresis    charcot-marie-tooth disease type 4
    charcot-marie-tooth disease type 2    charcot-marie-tooth neuropathy type 4    charcot-marie-tooth neuropathy type 2    tooth disease
    neuropathy    intermediate charcot-marie-tooth neuropathy    charcot-marie-tooth disease    charcot-marie-tooth neuropathy
    axonal neuropathy    hereditary neuropathies    mitochondrial complex i deficiency    paralysis

    2 diseases from the University of Copenhagen DISEASES database for GDAP1:
    Neuropathy     Myopathy

    GDAP1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for GDAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    charcot-marie-tooth disease 95.1 33 17039978 (4), 16172208 (2), 12821518 (2), 12566285 (2) (see all 23)
    sensory neuropathy 75.7 2 16172208 (1), 12821518 (1)
    demyelination 64.2 3 16172208 (1), 12499475 (1), 12566285 (1)
    clubfoot 50.4 1 12566285 (1)
    paralysis 48.2 5 15019704 (2), 18812441 (1), 12499475 (1), 12821518 (1)
    disability 5.05 1 18812441 (1)

    GeneTests: GDAP1
    GeneReviews: GDAP1
    Genetic Association Database (GAD): GDAP1
    Human Genome Epidemiology (HuGE) Navigator: GDAP1 (3 documents)

    Export disorders for GDAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GDAP1 gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with GDAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. (PubMed id 12566285)1, 2, 4, 9 Senderek J.... Schroeder J.M. (2003)
    2. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. (PubMed id 11743579)1, 2, 3, 9 Baxter R.V.... Vance J.M. (2002)
    3. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. (PubMed id 12868504)1, 2, 9 Azzedine H.... Dubourg O. (2003)
    4. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. (PubMed id 12499475)1, 2, 9 Nelis E.... Timmerman V. (2002)
    5. Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase. (PubMed id 16857173)1, 2, 9 Shield A.J....Board P.G. (2006)
    6. 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. (PubMed id 15019704)1, 4, 9 Stojkovic T....Vermersch P. (2004)
    7. CMT4A: identification of a Hispanic GDAP1 founder mutation. (PubMed id 12601710)1, 2, 9 Boerkoel C.F.... Lupski J.R. (2003)
    8. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (2008)
    9. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)1, 4 Fox C.S....Atwood L.D. (2007)
    10. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. (PubMed id 15772096)1, 2 Pedrola L....Palau F. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54332 HGNC: 15968 AceView: GDAP1 Ensembl:ENSG00000104381 euGenes: HUgn54332
    ECgene: GDAP1 H-InvDB: GDAP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GDAP1 Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GDAP1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GDAP1 gene:
    Search GeneIP for patents involving GDAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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