- N-acetylglucosaminidase,
alpha is a
protein that in
humans is
encoded by the
NAGLU gene. This gene
encodes an
enzyme that
degrades heparan sulfate by hydrolysis...
-
mutations causing this type Type A SGSH
heparan N-sulfatase 17q25.3 155 Type B
NAGLU Alpha-N-acetylglucosaminidase 17q21.2 229 Type C
HGSNAT acetyl-CoA:alpha-glucosaminide...
-
decade 1:280,000 – 1:50,000 MPS IIIB
Sanfilippo syndrome B
NAGLU deficiency 252920
NAGLU 17q21.2 N-acetylglucosaminidase MPS IIIC
Sanfilippo syndrome...
- (involved in t(15,17) with PML) (17q21) Type I
keratin cluster (17q21.2)
NAGLU: N-acetyl glucosaminidase,
Sanfilippo B
syndrome (17q21.2) SLC4A1: Band...
- α-N-acetylglucosaminidase
coloured by domain. PDB: 4XWH
Identifiers Symbol NAGLU NCBI gene 4669 HGNC 7632 OMIM 609701
RefSeq NM_000263
UniProt P54802 Other...
- to
Kapisa and
Kabul provinces in RC-East,
operating from FOBs
Tagab and
Naglu High,
positions formerly held by the
French Army. From
September 2012 to...
- 1:125,000-300,000
Sandhoff disease HEXB
recessive Sanfilippo syndrome SGSH,
NAGLU, HGSNAT, GNS 1:70,000 Scheuermann's
disease 1q21-q22 or 7q22
autosomal dominant...
- HGNC:25126 Q96HR8 10224 NAGA HGNC:7631 P17050 10225 NAGK HGNC:17174 Q9UJ70 10226
NAGLU HGNC:7632 P54802 10227
NAGPA HGNC:17378 Q9UK23 10228 NAGS HGNC:17996 Q8N159...
-
degradation of
heparan sulphate.
Mutations on the alpha-N-acetylglucosaminidase (
NAGLU) gene can lead to
Mucopolysaccharidosis type IIIB (MPS IIIB; or Sanfilippo...
-
Autosomal recessive CMT2U 616280 MARS 12q13.3
Autosomal dominant CMT2V 616491
NAGLU 17q21.2
Autosomal dominant CMT2W 616625 HARS1 5q31.3
Autosomal dominant...
