Details for Gene GALC

GENE NAME GALC
CHROMOSOME 14
ENSEMBL ID ENSG00000054983
ENTREZ ID 2581
UNIPROT ACCESSION NUMBER P54803
GO MOLECULAR FUNCTION galactosylceramidase activity
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa00600; hsa04142; R-HSA-1430728; R-HSA-1660662; R-HSA-428157; hsa01100; R-HSA-556833
3 combinations linked to GALC OLI926; OLI332; OLI335
3 variants linked to GALC GALC:c.437C>T, p.Ala146Val; GALC:c.256A>G, p.Thr86Ala; GALC:c.956A>G, p.Tyr319Cys
2 diseases linked to GALC Amyotrophic lateral sclerosis; Transposition of the great arteries

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