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Gene : GALC Homo sapiens

Name  ? galactosylceramidase Cytological Location  14q31.3
Brief Description  galactosylceramidase
Description  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]
  • synonyms:
  • uc001xvt.3,
  • L23116,
  • OTTHUMG00000028646,
  • Krabbe disease,
  • NM_000153,
  • galactosylceramidase (Krabbe disease),
  • GALC,
  • HGNC:4115
  • identifiers:
  • 2581,
  • ENSG00000054983,
  • GALC

Genome feature

Region: gene ? Length: 60652  
Location: 14:87933014-87993665 reverse strand Cyto location: 14q31.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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3753 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results