NAGLU wt Allele

Preferred Label : NAGLU wt Allele;

NCIt synonyms : CMT2V; NAG; MPS-IIIB; N-Acetyl-Alpha-Glucosaminidase wt Allele; N-Acetylglucosaminidase, Alpha Gene; MPS3B; N-Acetylglucosaminidase, Alpha- Gene; N-Acetyl-Alpha-D-Glucosaminidase Gene; Sanfilippo Disease IIIB Gene; UFHSD; UFHSD1;

NCIt definition : Human NAGLU wild-type allele is located in the vicinity of 17q21.2 and is approximately 8 kb in length. This allele, which encodes alpha-N-acetylglucosaminidase protein, is involved in the catabolism of heparan sulfate. Mutations in the gene are associated with axonal Charcot-Marie-Tooth disease type 2V and mucopolysaccharidosis type IIIB (Sanfilippo B).;

NCI Metathesaurus CUI : CL1926497;

GenBank Accession Number : NM_000263;

Details

Origin ID

C203855;

UMLS CUI

C5890939;

OMIM relation
- N-acetylglucosaminidase, alpha- [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21.2 [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Metabolism Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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