GALNS wt Allele

Preferred Label : GALNS wt Allele;

NCIt synonyms : Galactosamine (N-Acetyl)-6-Sulfatase wt Allele; Galactosamine (N-Acetyl)-6-Sulfate Sulfatase Gene; GAS; GalN6S; GALNAC6S; MPS4A;

NCIt definition : Human GALNS wild-type allele is located in the vicinity of 16q24.3 and is approximately 43 kb in length. This allele, which encodes N-acetylgalactosamine-6-sulfatase protein, is involved in the removal of 6-sulfate groups from chondroitin sulfate and keratan sulfate. Mutation of the gene is associated with mucopolysaccharidosis IVA (Morquio syndrome A).;

GenBank Accession Number : D17629;

Details

Origin ID

C201863;

OMIM relation
- Galactosamine-6-sulfate sulfatase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q24.3 [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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