| RareLSD_Id | 1043 |
| ENZYME | Heparaglucosaminide Nacetyltransferase (TMEM76) |
| GENE | HGSNAT |
| E.C.NUMBER | 2.3.1.78 |
| FAMILY | Acetyltransfersases |
| CYTOGENETICS | 8p11.21-p11.1 |
| DISEASE | Mucopolysaccharidosis type IIIC |
| SNP | rs1057518644,rs1058608,rs1085307112,rs112029032,rs... |
| DEPOSIT | heparan sulfate |
| REF | 676018, 20583299 , 3090688 |
| TEMP (in Celsius) | 37 |
| pI | 7.4 |
| pH | 5.5 |
| Catalytic Nucleophile | His269 |
Catalytic Acid/Base
| NA |
| Substrate | AcetylCoA + heparan sulfate alpha-D-glucosaminide |
| Product | CoA + heparan sulfate NacetylalphaD-glucosaminide. |
| Structure(PDB/Phyre2_ID) | d1qlec |
| kM | 0.0025 |
| DRUG | Genistein sodium salt dihydrate,adenoassociated viral vector,serotype 9 containing the human HGST gene |
| SEQ LENGTH | 663 |
| AA SEQ | MTGARASAAEQRRAGRSGQARAAERAAGMSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHAELKMDQALLLIHNELLWTNLTVYWKSECCYHCLFQVLVNVPQSPKAGKPSAAAASVSTQHGSILQLNDTLEEKEVCRLEYRFGEFGNYSLLVKNIHNGVSEIACDLAVNEDPVDSNLPVSIAFLIGLAVIIVISFLRLLLSLDDFNNWISKAISSRETDRLINSELGSPSRTDPLDGDVQPATWRLSALPPRLRSVDTFRGIALILMVFVNYGGGKYWYFKHASWNGLTVADLVFPWFVFIMGSSIFLSMTSILQRGCSKFRLLGKIAWRSFLLICIGIIIVNPNYCLGPLSWDKVRIPGVLQRLGVTYFVVAVLELLFAKPVPEHCASERSCLSLRDITSSWPQWLLILVLEGLWLGLTFLLPVPGCPTGYLGPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHLYQHPSSAVLYHTEVAYDPEGILGTINSIVMAFLGVQAGKILLYYKARTKDILIRFTAWCCILGLISVALTKVSENEGFIPVNKNLWSLSYVTTLSSFAFFILLVLYPVVDVKGLWTGTPFFYPGMNSILVYVGHEVFENYFPFQWKLKDNQSHKEHLTQNIVATALWVLIAYILYRKKIFWKI |
| MODIFICATION | N-linked Glycosylation:Asn94,Asn142,Asn162,Asn461,Phosphorylation:Ser243,Ser245 |
| INHIBITOR | N-bromosuccinimide,coenzyme A,D-glucosaminedesulfoCoA,N-acetylbetaD-glucosamine |
| ACTIVE SITE RESIDUE | His297 |
| DISULPHIDE BRIDGES | *151-462 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | Acetylates the nonreducing termil alphaglucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for lumil alphaNacetyl glucosaminidase |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | HEart,Hair,Muscle,Boness,Nervous System,Lungs,Spleen,Liver,Eye,Ear,Nose |
| ENZYME LOCATION | NMBH |
| UniProt ID | Q68CP4 |
