Ganglioside-Induced Differentiation-Associated Protein 1

Alternative Names

  • GDAP1
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OMIM Number

606598

NCBI Gene ID

54332

Uniprot ID

Q8TB36

Length

167743 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Ganglioside-induced differentiation-associated protein 1

Molecular Mass

41346Da

Amino Acid Count

358

Genomic Location

chr8:74321130-74488872

Gene Map Locus
8q21.11

Description

GDAP1 gene encodes ganglioside-induced differentiation-associated protein 1, which is a member of the ganglioside-induced differentiation-associated protein family. GDAP1 is localised in the outer mitochondrial membrane and considered to regulate the mitochondrial network dynamics by promoting mitochondrial fission critical for maintaining the functional integrity of myelinated peripheral nerves. It may also be involved in signal transduction during neuronal development.

Mutations in GDAP1 gene is associated with Charcot-Marie-Tooth disease Type 4A (CMT4A) and Charcot-Marie-Tooth disease recessive intermediate A. In CMT4A, GDAP1 mutations cause the demyelination of the peripheral nerve axons and/or axonal degeneration, leading to impairment of axons that transmit nerve impulses. Thus, nerve cells slowly lose the ability to stimulate the muscles and transmit sensory signals.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018972.2:c.482G>ATunisiaNC_000008.11:g.74360308G>APathogenic, Uncertain SignificancePathogenicCharcot-Marie-Tooth Disease, Type 4ANG_008787.3:g.44179G>A; NM_018972.2:c.482G>A; NP_061845.2:p.Arg161His1048940764192
NM_018972.2:c.92G>ATunisiaChr8:74350553PathogenicPathogenicCharcot-Marie-Tooth Disease, Type 4ANG_008787.3:g.34424G>A; NM_018972.2:c.92G>A; NP_061845.2:p.Trp31Ter1219081124190
NM_018972.4:c.485-2A>GAlgeriaNC_000008.11:g.74361882A>GUncertain SignificanceLikely PathogenicCharcot-Marie-Tooth Disease, Type 4ANG_008787.3:g.45753A>G; NM_018972.4:c.485-2A>G1586804734637553
NM_018972.4:c.581C>GMorocco; TunisiaNC_000008.11:g.74362940C>GPathogenicPathogenicCharcot-Marie-Tooth Disease, Type 4ANG_008787.3:g.46811C>G; NM_018972.4:c.581C>G; NP_061845.2:p.Ser194Ter1048940754191
NM_018972.4:c.668T>ALebanonNC_000008.11:g.74363027T>AUncertain SignificanceLikely PathogenicCharcot-Marie-Tooth Disease, Type 4ANG_008787.3:g.46898T>A; NM_018972.4:c.668T>A; NP_061845.2:p.Leu223Ter769449440637554
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