- N-acetyltransferase") is an
enzyme that in
humans is
encoded by the
HGSNAT gene. In enzymology, this
enzyme belongs to the
family of transferases,...
- 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...
-
NAGLU 17q21.2 N-acetylglucosaminidase MPS IIIC
Sanfilippo syndrome C 252930
HGSNAT 8p11.21 Heparan-α-glucosaminide N-acetyltransferase MPS IIID Sanfilippo...
- 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...
- HGNC:4894 Q04756 7040 HGH1 HGNC:24161 Q9BTY7 7041 HGS HGNC:4897 O14964 7042
HGSNAT HGNC:26527 Q68CP4 7043 HHAT HGNC:18270 Q5VTY9 7044
HHATL HGNC:13242 Q9HCP6...
-
human inability to
produce Vitamin C HGH1:
encoding protein Hgh1
homolog HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase HMBOX1:
encoding protein...
- N-acetyltransferase (S. cerevisiae) GNPNAT1 glucosamine-phosphate N-acetyltransferase 1
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase MAK10 MAK10 homolog, amino-acid...
- ALG9, DISP1, NPC1, FZD2, FAM69A, ATP6V1G2, ASIC1, DPY19L4, SPPL2B, and
HGSNAT.
Variants of C15orf32 has been
linked to
several traits through genome wide...
-
Sanfilippo syndrome, type B; 252920;
NAGLU Sanfilippo syndrome, type C; 252930;
HGSNAT Sarcoidosis, early-onset; 609464; NOD2 SC
phocomelia syndrome; 269000; ESCO2...
