GALC

Gene Symbol GALC
Entrez Gene 2581
Alt Symbol -
Species Human
Gene Type protein-coding
Description galactosylceramidase
Other Description GALCERase|galactocerebrosidase|galactocerebroside beta-galactosidase|galactosylceramide beta-galactosidase|galactosylceraminidase
Swissprots J3KPP8 J3KN25 Q8J030 B7Z7Z2 B4DYN1 P54803 B4DKE8 B4DZJ8
Accessions AAA80975 BAA24902 EAW81359 EAW81360 EAW81361 EAW81362 P54803 AI025909 AK294040 BAG57392 AK296530 BAG59160 AK302519 BAG63793 AK302683 BAH13778 AK302956 BAG64110 BC036518 AAH36518 BE501000 BQ015788 BU675449 CK299420 D25283 BAA04971 D25284 BAA04972 DA247447 DA323070 DA332567 DB366392 DC334180 DQ891232 ABM82158 DQ894416 ABM85342 H80485 L23116 AAA16645 XM_011536618 XP_011534920 NM_000153 NP_000144 NM_001201401 NP_001188330 NM_001201402 NP_001188331 NM_001037525
Function Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. {ECO:0000269|PubMed:8281145, ECO:0000269|PubMed:8399327}.
Subcellular Location Lysosome.
Tissue Specificity Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver. {ECO:0000269|PubMed:8399327}.
Top Pathways Lysosome, Sphingolipid metabolism