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...
5 KB (588 words) - 00:45, 11 August 2024
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...
44 KB (5,113 words) - 21:14, 24 October 2024
decade 1:280,000 – 1:50,000 MPS IIIB Sanfilippo syndrome B NAGLU deficiency 252920 NAGLU 17q21.2 N-acetylglucosaminidase MPS IIIC Sanfilippo syndrome...
27 KB (3,047 words) - 15:03, 27 October 2024
(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...
26 KB (1,947 words) - 21:00, 6 October 2024
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...
42 KB (983 words) - 18:14, 6 October 2024
degradation of heparan sulphate. Mutations on the alpha-N-acetylglucosaminidase (NAGLU) gene can lead to Mucopolysaccharidosis type IIIB (MPS IIIB; or Sanfilippo...
6 KB (553 words) - 21:20, 6 August 2023
Nagļi Parish (Latvian: Nagļu pagasts) is an administrative unit of Rēzekne Municipality, Latvia. "Reģionu, novadu, pilsētu un pagastu kopējā un sauszemes...
490 bytes (84 words) - 08:31, 1 November 2024
α-N-acetylglucosaminidase coloured by domain. PDB: 4XWH Identifiers Symbol NAGLU NCBI gene 4669 HGNC 7632 OMIM 609701 RefSeq NM_000263 UniProt P54802 Other...
4 KB (315 words) - 00:46, 24 September 2023
Autosomal recessive CMT2U 616280 MARS 12q13.3 Autosomal dominant CMT2V 616491 NAGLU 17q21.2 Autosomal dominant CMT2W 616625 HARS1 5q31.3 Autosomal dominant...
14 KB (276 words) - 01:02, 3 March 2024
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...
151 KB (20,623 words) - 11:43, 24 October 2024
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...
282 KB (17 words) - 18:42, 6 October 2024
(Russia) — construction on a turn-key basis of CCGT power unit of 400 MW HPP "Naglu" (Afghanistan) — modernization of the 94-MW hydroelectric power plant. TPP...
10 KB (1,144 words) - 01:25, 21 October 2024
Sanfilippo syndrome, type A; 252900; SGSH Sanfilippo syndrome, type B; 252920; NAGLU Sanfilippo syndrome, type C; 252930; HGSNAT Sarcoidosis, early-onset; 609464;...
234 KB (18,877 words) - 15:43, 9 May 2024