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Details of RareLSD ID 1038

RareLSD_Id	1038
ENZYME	Galactocerebrosidase
GENE	GALC
E.C.NUMBER	3.2.1.46
FAMILY	GH59
CYTOGENETICS	14q31.3
DISEASE	Krabbe disease (globoid cell leukodystrophy)
SNP	rs1042029,rs1042035,rs1042042,rs1057516270,rs1057516394
DEPOSIT	galactosylceramide/cytotoxic psychosine
REF	3094585, 507819, 42440, 3934152
TEMP (in Celsius)	37
pI	NA
pH	4.0-4.4.
Catalytic Nucleophile	Glu
Catalytic Acid/Base	Glu
Substrate	4methylumbelliferylbetaD-galactopyranoside +H2O
Product	4methylumbelliferone + betaDgalactopyranose
Structure(PDB/Phyre2_ID)	c3zr6A
kM	0.47
DRUG	Recombint human galactocerebrosidase
SEQ LENGTH	685
AA SEQ	MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR
MODIFICATION	N-linked Glycosylation:Asn143,Asn379,Asn403,Asn556,Asn559,Asn602
INHIBITOR	6-hexadecanoylamino4-methylbelliferylbeta D-galactopyranoside ,D-galactose,galactonyl hydrazide,lactoseN-(6-aminohexyl),D-galactoside,taurocholate
ACTIVE SITE RESIDUE	Glu 198
DISULPHIDE BRIDGES	*287-394
PSEUDOGENES	NA
MISCELLANEOUS	NA
PARALOGS	NA
MECHANISM	catalyses the hydrolysis of the galactosyl moiety from glycosphingolipids such as galactocerebroside and psychosine
INHERITANCE PATTERN	Autosomal recessive
ORGAN AFFECTED	Nervous System,Eye,Ear
ENZYME LOCATION	NMBH
UniProt ID	P54803