GALC

Chr 14AR

galactosylceramidase

NCBI Gene: 2581 ENSG00000054983 UniProt: P54803 OMIM: 606890

The protein encoded by this gene is a lysosomal enzyme that hydrolyzes galactose ester bonds in galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations cause Krabbe disease (globoid cell leukodystrophy) through autosomal recessive inheritance. The pathogenic mechanism involves deficiency of this galactocerebrosidase enzyme leading to accumulation of toxic galactolipid substrates in the nervous system.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Krabbe diseaseMIM #245200

Clinical highlights

Management implications

GALC has therapies in development

Gene-disease validity (ClinGen)

Krabbe disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.94

LOEUF

LOF

Mechanism· G2P

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GeneReview available — GALC

Authoritative clinical overview · Recommended first read

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FBX-101
AAV gene therapyPhase 1/2
AAV delivery of GALC, often after haematopoietic stem-cell transplant.
Delivery: One-time IV
Frequently paired with transplant

Therapeutic landscape as of 2026-07. Educational only. Investigational ≠ available; not medical advice or eligibility. Approved entries are precise; investigational program names/phases are conservative and move fast. Curated from FDA/EMA approvals and the clinical-trial literature; verify against current labeling + ClinicalTrials.gov.

ClinicalTrials.gov