HGSNAT heparan-alpha-glucosaminide N-acetyltransferase [Homo sapiens (human)]
| Gene Symbol | HGSNAT |
| Entrez Gene ID | 138050 |
| Full Name | heparan-alpha-glucosaminide N-acetyltransferase |
| Synonyms | DKFZp686G24175, FLJ22242, FLJ32731, HGNAT, MPS3C, TMEM76 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
8 8p11.1 |
| Summary | This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq]. COMPLETENESS: complete on the 3' end. |
| Disorder | MIM: 610453 Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3) |
| mRNA | NM_152419, 150378451 |
| Protein | NP_689632, 150378452 |
| Product | heparan-alpha-glucosaminide N-acetyltransferase |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | HGSNAT | NP_689632.2 |
| Pan troglodytes (chimpanzee) | HGSNAT | XP_519741.2 |
| Canis lupus familiaris (dog) | HGSNAT | XP_539948.2 |
| Bos taurus (cattle) | HGSNAT | XP_588978.4 |
| Mus musculus (house mouse) | Hgsnat | NP_084160.1 |
| Gallus gallus (chicken) | HGSNAT | XP_420455.2 |
| Danio rerio (zebrafish) | si:dkey-192p21.6 | NP_001139059.1 |
| Drosophila melanogaster (fruit fly) | CG6903 | NP_572198.1 |
| Arabidopsis thaliana (thale cress) | AT5G27730 | NP_568500.1 |
| ID | Name | Evidence |
| GO:0007041 | lysosomal transport | IDA |
| GO:0051259 | protein oligomerization | IDA |
Component
| ID | Name | Evidence |
| GO:0005765 | lysosomal membrane | IDA |
| GO:0016020 | membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0008415 | acyltransferase activity | IDA |
| GO:0015019 | heparan-alpha-glucosaminide N-acetyltransferase activity | IEA |
| GO:0016740 | transferase activity | IEA |
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