| RareLSD_Id | 1040 |
| ENZYME | Ganglioside GM2 activator |
| GENE | GM2A |
| E.C.NUMBER | 3.2.1.52 |
| FAMILY | Ntn-hydrolase |
| CYTOGENETICS | 5q33.1 |
| DISEASE | Gm2-Gangliosidosis, Ab Variant |
| SNP | rs137852797,rs104893892,rs104893897,rs153477,VAR_006947,VAR_011698 |
| DEPOSIT | GM2 gangliosides |
| REF | 14702039, 1915857, 8900233 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 4.25 |
| Catalytic Nucleophile | NA |
Catalytic Acid/Base
| NA |
| Substrate | GM2 ganglioside + H2O |
| Product | GM3 ganglioside + N-acetylbeta-D-galactosamine |
| Structure(PDB/Phyre2_ID) | 2AF9 |
| kM | 0.046 -0.12 |
| DRUG | Acetylleucine |
| SEQ LENGTH | 193 |
| AA SEQ | MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI |
| MODIFICATION | N-linked Glycosylation:Asn63 |
| INHIBITOR | O(2acetamido2deoxyD-glucopyranosylidene)amino Nphenylcarbamate,pChloromercuriphenylsulfote,N[1(7aminoheptyl)]2acetamido1,2,5trideoxy1,5iminoDglucitol N-benzyl-2-acetamido1,2,4-trideoxy1,4-iminoD-arabinitol;ascorbate;Ag+,2amino6-(methoxymethyl)pyrimidin4ol;1,2-dideoxy2'methylalpha-D-glucopyranoso[2,1d]DELTA2'thiazoline |
| ACTIVE SITE RESIDUE | NA |
| DISULPHIDE BRIDGES | *39-183,*99-106,*112-138,*125-136 |
| PSEUDOGENES | PGOHUM00000245084, PGOHUM00000238224 |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | It extracts single GM2 molecules from membranes and presents them in soluble form to betahexosaminidase A for cleavage of NacetylDgalactosamine and conversion to GM3 |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System,Eye,Muscle |
| ENZYME LOCATION | NMBH |
| UniProt ID | P17900 |
