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; OLI335; OLI332 |
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 |