Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1022 |
| RareLSD_Id | 1022 |
| ENZYME | Beta Hexosaminidase beta-subunit |
| GENE | HEXB |
| E.C.NUMBER | 3.2.1.52 |
| FAMILY | GH20 |
| CYTOGENETICS | 5q13.3 |
| DISEASE | GM2gangliosidosis type II (Sandhoff disease) |
| SNP | rs114661695,rs1005713328,rs1057518709,rs1060499701,rs10805890 |
| DEPOSIT | GM2 gangliosides&molecules containing terminal N-acetyl hexosamines |
| REF | 23290073, 1531140, 1720305, 7557963, 7633435, 9694901, 9401004 |
| TEMP (in Celsius) | 30 |
| pI | 8.3 |
| pH | 4.25 |
| Catalytic Nucleophile | NA |
| Catalytic Acid/Base | Glu355 |
| Substrate | 4methylumbelliferyl+2-acetamido2deoxybeta-D-galactopyranoside + H2O |
| Product | 4-methylumbelliferone + 2acetamido2-deoxybetaD-galactopyranoside |
| Structure(PDB/Phyre2_ID) | 5BRO |
| kM | 0.108 |
| DRUG | Acetylleucine |
| SEQ LENGTH | 556 |
| AA SEQ | MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLPLSVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQAKTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM |
| MODIFICATION | N-linked Glycosylation:Asn84,Asn142,Asn190,Asn323,Asn327, N-linked glycans:Asn142Man(3)Glcc(2),Asn190Man(5 to 7)Glcc(2),Ubiquitination:Lys465 |
| INHIBITOR | glucosamine,N-[1(7-aminoheptyl)]2-acetamido1,2,5-trideoxy1,5-iminoD-glucitol;o(2-deoxy-2-isovaleramidoD-glucopyranosylidene)amino N-phenylcarbamate,Cu2+;2-acetamido1,2-dideoxy1,5-iminoD-glucitol;1,2-dideoxy2'methyalpha-D-glucopyranoso[2,1d]DELTA2'thiazoline |
| ACTIVE SITE RESIDUE | Glu355 |
| DISULPHIDE BRIDGES | *91-137,*309-360,*534-551 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | The betaA and betaB chains are produced by proteolytic processing of the precursor beta chain |
| PARALOGS | HEXA |
| MECHANISM | Hydrolysis of terminal non-reducing N-acetylD-hexosamine residues in N-acetylbetaD-hexosaminides |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System,Lungs,Eye,Muscle,Skin |
| ENZYME LOCATION | NMBH |
| UniProt ID | P07686 |