N-acetyltransferase") is an enzyme that in humans is encoded by the HGSNAT gene. In enzymology, this enzyme belongs to the family of transferases,...
6 KB (664 words) - 22:18, 31 March 2024
17q25.3 155 Type B NAGLU Alpha-N-acetylglucosaminidase 17q21.2 229 Type C HGSNAT acetyl-CoA:alpha-glucosaminide N-acetyltransferase 8p11.21 77 Type D GNS...
46 KB (5,316 words) - 23:21, 13 August 2024
NAGLU 17q21.2 N-acetylglucosaminidase MPS IIIC Sanfilippo syndrome C 252930 HGSNAT 8p11.21 Heparan-α-glucosaminide N-acetyltransferase MPS IIID Sanfilippo...
27 KB (3,047 words) - 23:21, 13 August 2024
000-300,000 Sandhoff disease HEXB recessive Sanfilippo syndrome SGSH, NAGLU, HGSNAT, GNS 1:70,000 Scheuermann's disease 1q21-q22 or 7q22 autosomal dominant...
43 KB (983 words) - 04:37, 11 August 2024
HGNC:4894 Q04756 7043 HGH1 HGNC:24161 Q9BTY7 7044 HGS HGNC:4897 O14964 7045 HGSNAT HGNC:26527 Q68CP4 7046 HHAT HGNC:18270 Q5VTY9 7047 HHATL HGNC:13242 Q9HCP6...
277 KB (17 words) - 15:46, 9 May 2024
N-acetyltransferase (S. cerevisiae) GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase MAK10 MAK10 homolog, amino-acid...
16 KB (1,638 words) - 14:10, 17 May 2024
GULOP pseudogene: responsible for human inability to produce Vitamin C HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase HMBOX1: encoding protein...
29 KB (1,896 words) - 23:26, 28 March 2024
ALG9, DISP1, NPC1, FZD2, FAM69A, ATP6V1G2, ASIC1, DPY19L4, SPPL2B, and HGSNAT. Variants of C15orf32 has been linked to several traits through genome wide...
18 KB (1,582 words) - 02:32, 10 March 2024
Sanfilippo syndrome, type B; 252920; NAGLU Sanfilippo syndrome, type C; 252930; HGSNAT Sarcoidosis, early-onset; 609464; NOD2 SC phocomelia syndrome; 269000; ESCO2...
234 KB (18,877 words) - 15:43, 9 May 2024