full name
heparan-alpha-glucosaminide N-acetyltransferase

synonyms
HGNAT, MPS3C, TMEM76, HGSNAT, ENSG00000165102

HGNC
HGNC:26527

Entrez Gene
Gene:138050

ENSEMBL
ENSG00000165102

location
chr: 8
start: 42995592
stop: 43057970
strand: +

OMIM
OMIM:610453: HGSNAT (Autosomal recessive inheritance)
OMIM:252930: Mucopolysaccharidosis type IIIC (Sanfilippo C)
OMIM:616544: Retinitis pigmentosa 73

transcripts
NM_152419.2

pathways
Glycosaminoglycan degradation [NCBI:82981] [KEGG:hsa00531] [PUBMED:27570] [PUBMED:3161730]
Heparan sulfate degradation [NCBI:413377] [KEGG:hsa_M00078]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Lysosome [NCBI:99052] [KEGG:hsa04142] [PUBMED:2943218] [PUBMED:12628346] [PUBMED:1883197] [PUBMED:18635948] [PUBMED:15987739]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]