GDAP1

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

AliasesGDAP1, CMT4, CMT4A, CMTRIA, ganglioside induced differentiation associated protein 1

External IDsOMIM: 606598; MGI: 1338002; HomoloGene: 40713; GeneCards: GDAP1; OMA:GDAP1 - orthologs

Chr.Chromosome 8 (human)^[1]

End74,518,007 bp^[1]

Quick facts Identifiers, Aliases ...

GDAP1
Identifiers
Aliases	GDAP1, CMT4, CMT4A, CMTRIA, ganglioside induced differentiation associated protein 1
External IDs	OMIM: 606598; MGI: 1338002; HomoloGene: 40713; GeneCards: GDAP1; OMA:GDAP1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q21.11 Start 74,320,613 bp[1] End 74,518,007 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 A3 Start 17,215,586 bp[2] End 17,234,495 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell secondary oocyte Brodmann area 23 cerebellar vermis postcentral gyrus entorhinal cortex pons middle temporal gyrus pars compacta superior frontal gyrus Top expressed in barrel cortex substantia nigra zygote ventral tegmental area medial vestibular nucleus pontine nuclei secondary oocyte dorsal tegmental nucleus habenula primary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function glutathione transferase activity Cellular component integral component of membrane mitochondrial outer membrane integral component of mitochondrial outer membrane membrane mitochondrion nucleus cytoplasm cytosol Biological process mitochondrial fusion protein targeting to mitochondrion response to retinoic acid mitochondrial fission cellular response to vitamin D glutathione metabolic process mitochondrion organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54332 14545 Ensembl ENSG00000104381 ENSMUSG00000025777 UniProt Q8TB36 O88741 RefSeq (mRNA) NM_001040875 NM_018972 NM_001362929 NM_001362930 NM_001362931 NM_001362932 NM_010267 RefSeq (protein) NP_001035808 NP_061845 NP_001349858 NP_001349859 NP_001349860 NP_001349861 NP_034397 Location (UCSC) Chr 8: 74.32 – 74.52 Mb Chr 1: 17.22 – 17.23 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Close

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]