Galactosylceramidase

Alternative Names

  • GALC
  • Galactocerebrosidase

Associated Diseases

Krabbe Disease
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OMIM Number

606890

NCBI Gene ID

2581

Uniprot ID

P54803

Length

155,846 bases

No. of Exons

9

No. of isoforms

4

Protein Name

Galactocerebrosidase

Molecular Mass

77063 Da

Amino Acid Count

685

Genomic Location

chr14:87,933,013-87,993,664

Gene Map Locus
14q31

Description

The galactosylceramidase gene (GALC) encodes a lysosomal enzyme which catabolises degradation of several galactolipids such as galactosylceramide, galactosylsphingosine and galactosyldi-glyceride.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000153.4:c.1630G>APalestinechr14:87945593PathogenicPathogenicKrabbe DiseaseNG_011853.3:g.52971G>A; NM_000153.4:c.1630G>A; NP_000144.2:p.Asp544Asn38790695230614
NM_000153.4:c.1796T>GPalestinechr14:87941433PathogenicPathogenicKrabbe DiseaseNG_011853.3:g.57131T>G; NM_000153.4:c.1796T>G; NP_000144.2:p.Ile599Ser38790695330615

Other Reports

Palestine

Oehlmann et al. (1993) localized the gene responsible for Krabbe disease to 14q24.3-q32.1.

 

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