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FIGURE: 1 / 2
Sequence of this protein is as follows: MTAAAGSAGR AAVPLLLCAL LAPGGAYVLD DSDGLGREFD GIGAVSGGGA TSRLLVNYPE PYRSQILDYL FKPNFGASLH ILKVEIGGDG QTTDGTEPSH MHYALDENYF RGYEWWLMKE AKKRNPNITL IGLPWSFPGW LGKGFDWPYV NLQLTAYYVV TWIVGAKRYH DLDIDYIGIW NERSYNANYI KILRKMLNYQ GLQRVKIIAS DNLWESISAS MLLDAELFKV VDVIGAHYPG THSAKDAKLT GKKLWSSEDF STLNSDMGAG CWGRILNQNY INGYMTSTIA WNLVASYYEQ LPYGRCGLMT AQEPWSGHYV VESPVWVSAH TTQFTQPGWY YLKTVGHLEK GGSYVALTDG LGNLTIIIET MSHKHSKCIR PFLPYFNVSQ QFATFVLKGS FSEIPELQVW YTKLGKTSER FLFKQLDSLW LLDSDGSFTL SLHEDELFTL TTLTTGRKGS YPLPPKSQPF PSTYKDDFNV DYPFFSEAPN FADQTGVFEY FTNIEDPGEH HFTLRQVLNQ RPITWAADAS NTISIIGDYN WTNLTTKCDV YIETPDTGGV FIAGRVNKGG ILIRSARGIF FWIFANGSYR VTGDLAGWII YALGRVEVTA KKWYTLTLTI KGHFASGMLN DKSLWTDIPV NFPKNGWAAI GTHSFEFAQF DNFLVEATR
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.
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Protein Aliases: 3.2.1.46; beta-galactosidase; Galactocerebrosidase; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase; galactosylceraminidase; GALCERase; testis tissue sperm-binding protein Li 88E; testis tissue sperm-binding protein Li 89A
Gene Aliases: GALC
UniProt ID: (Human) P54803
Entrez Gene ID: (Human) 2581
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