| 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 |
