GDAP1

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GDAP1
Identifiers
AliasesGDAP1, CMT4, CMT4A, CMTRIA, ganglioside induced differentiation associated protein 1
External IDsMGI: 1338002 HomoloGene: 40713 GeneCards: GDAP1
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for GDAP1
Genomic location for GDAP1
Band8q21.11Start74,321,130 bp[1]
End74,488,872 bp[1]
RNA expression pattern
PBB GE GDAP1 221279 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_010267

RefSeq (protein)

NP_034397

Location (UCSC)Chr 8: 74.32 – 74.49 MbChr 1: 17.15 – 17.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ganglioside-induced differentiation-associated protein 1 is a protein that in humans is encoded by the GDAP1 gene.[5][6]

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 have been identified for this gene.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104381 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025777 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Gauldie J, Bhandari SC, Singal DP (Apr 1976). "Alteration of the HL-A antigenic site in situ". Immunol Commun. 4 (5): 465–76. doi:10.3109/08820137509057334. PMID 54332.
  6. ^ a b "Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1".

Further reading[edit]

External links[edit]