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Gene

GDAP1

ganglioside induced differentiation associated protein 1

Summary

Cytogenetic location
8q21.11
Coordinates
Chromosome 8: 74,350,403–74,366,876 (GRCh38)
Exons
6 exons across 16.5 kb
Protein
358 amino acids
Also known as
CMT4, CMT2K
Previous symbols
CMT4A
MANE Select transcript
ENST00000220822.12NM_018972.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    How GDAP1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 8, with a bracket where GDAP1 sits. GDAP1 and 7 genes near it on chromosome 8, from 73,858,640 to 74,858,639.Chromosome 88q21.11p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.374 Mb74.2 Mb74.4 Mb74.6 Mb74.8 Mb: 73,688,691–73,878,854, reverse strandUBE2W: 73,756,076–73,878,913, reverse strandUBE2WELOC: 73,930,172–73,972,311, reverse strandELOCTMEM70: 73,972,437–73,986,514, forward strandTMEM70LY96: 73,991,346–74,032,658, forward strandLY96JPH1: 74,234,700–74,321,607, reverse strandJPH1GDAP1: 74,350,403–74,366,876, forward strandGDAP1PI15: 74,824,478–74,855,029, forward strandPI15Diagram of GDAP1: 6 exons on the forward strand of chromosome 8Exon 1: 8 known disease-causing sitesExon 2: 14 known disease-causing sitesExon 3: 22 known disease-causing sitesExon 4: 10 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 6: 25 known disease-causing sitesExon 1: 74,350,403–74,350,578, 176 basesExon 2: 74,351,274–74,351,466, 193 basesExon 3: 74,360,137–74,360,310, 174 basesExon 4: 74,361,884–74,361,978, 95 basesExon 5: 74,362,939–74,363,053, 115 basesExon 6: 74,363,985–74,366,876, 2,892 bases1234565′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 3.6 kb of the gene's 16.5 kb; 1,077 of those bases code for the protein.

    How a genome test reads GDAP1

    94

    positions in GDAP1 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 16.5 kb of GDAP1, introns included, not only the 3.6 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). GDAP1 gene: ganglioside induced differentiation associated protein 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/gdap1

    Vancouver

    Dante Labs. GDAP1 gene: ganglioside induced differentiation associated protein 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gdap1

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