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Sequence of this protein is as follows: YVLDDSDGLG REFDGIGAVS GGGATSRLLV NYPEPYRSQI LDYLFKPNFG ASLHILKVEI GGDGQTTDGT EPSHMHYALD GNYFRGYEWW LMKEAKKRNP NITLIGLPWS FPGWLGKGFD WPYVNLQLTA YYVVTWIVGA KRYHDLDIDY IGIWNERSYN ANYIKILRKM LNYQGLQRVK IIASDNLWES ISASMLLDAE LFKVVDVIGA HYPGTHSAKD AKLTGKKLWS SEDFSTLNSD MGAGCWGRIL NQNYINGYMT STIAWNLVAS YYEQLPYGRC GLMTAQEPWS GHYVVESPVW VSAHTTQFTQ PGWYYLKTVG HLEKGGSYVA LTDGLGNLTI IIETMSHKHS KCIRPFLPYF NVSQQFATFV LKGSFSEIPE LQVWYTKLGK TSERFLFKQL DSLWLLDSDG SFTLSLHEDE LFTLTTLTTG RKGSYPLPPK SQPFPSTYKD DFNVDYPFFS EAPNFADQTG VFEYFTNIED PGEHHFTLRQ VLNQRPITWA ADASNTISII GDYNWTNLTT KCDVYIETPD TGGVFIAGRV NKGGILIRSA RGIFFWIFAN GSYRVTGDLA GWIIYALGRV EVTAKKWYTL TLTIKGHFAS GMLNDKSLWT DIPVNFPKNG WAAIGTHSFE FAQFDNFRVE ATR
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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