Skip to content
Use your HSA or FSA funds

Gene

GALC

galactosylceramidase

Summary

Cytogenetic location
14q31.3
Coordinates
Chromosome 14: 87,933,014–87,993,182 (GRCh38)
Exons
17 exons across 60.2 kb
Protein
685 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000261304.7NM_000153.4
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 reports relevant to this gene

  • Krabbe Disease

    • Krabbe disease (globoid cell leukodystrophy)Autosomal recessive

      Deficiency of the enzyme galactocerebrosidase leads to loss of myelin in the brain and peripheral nerves, with irritability, stiffness and developmental regression in the infantile form and slower progression in later onset forms.

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

      Krabbe disease is included in some newborn screening programmes; stem cell transplantation can change the course when carried out before symptoms begin.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

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

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 8 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How GALC is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where GALC sits. GALC and 3 genes near it on chromosome 14, from 87,463,098 to 88,463,097.Chromosome 1414q31.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3387.6 Mb87.8 Mb88 Mb88.2 Mb88.4 MbGALC: 87,933,014–87,993,182, reverse strandGALCGPR65: 88,005,129–88,014,811, forward strandGPR65KCNK10: 88,180,103–88,326,907, reverse strandKCNK10SPATA7: 88,384,924–88,472,529, forward strandSPATA7Diagram of GALC: 17 exons on the reverse strand of chromosome 14Exon 17: 12 known disease-causing sitesExon 16: 14 known disease-causing sitesExon 15: 21 known disease-causing sitesExon 14: 20 known disease-causing sitesExon 13: 16 known disease-causing sitesExon 12: 12 known disease-causing sitesExon 11: 10 known disease-causing sitesExon 10: 13 known disease-causing sitesExon 9: 21 known disease-causing sitesExon 8: 24 known disease-causing sitesExon 7: 17 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 15 known disease-causing sitesExon 4: 22 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 1: 30 known disease-causing sitesExon 17: 87,933,014–87,934,878, 1,865 basesExon 16: 87,939,905–87,939,981, 77 basesExon 15: 87,941,395–87,941,558, 164 basesExon 14: 87,945,553–87,945,733, 181 basesExon 13: 87,947,728–87,947,878, 151 basesExon 12: 87,949,845–87,949,931, 87 basesExon 11: 87,950,659–87,950,748, 90 basesExon 10: 87,963,384–87,963,511, 128 basesExon 9: 87,965,505–87,965,629, 125 basesExon 8: 87,968,335–87,968,490, 156 basesExon 7: 87,976,358–87,976,488, 131 basesExon 6: 87,982,205–87,982,243, 39 basesExon 5: 87,984,394–87,984,533, 140 basesExon 4: 87,986,489–87,986,602, 114 basesExon 3: 87,988,144–87,988,207, 64 basesExon 2: 87,988,455–87,988,523, 69 basesExon 1: 87,992,970–87,993,182, 213 bases1716141210864215′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 3.8 kb of the gene's 60.2 kb; 2,058 of those bases code for the protein.

How a genome test reads GALC

320

positions in GALC 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 60.2 kb of GALC, introns included, not only the 3.8 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.). GALC gene: galactosylceramidase. Retrieved 17 October 2026, from https://dantelabs.com/genes/galc

Vancouver

Dante Labs. GALC gene: galactosylceramidase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/galc

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test