B4GALNT1 wt Allele

Preferred Label : B4GALNT1 wt Allele;

NCIt synonyms : UDP-N-Acetyl-Alpha-D-Galactosamine:(N-Acetylneuraminyl)-Galactosylglucosylceramide N-Acetylgalactosaminyltransferase (GalNAc-T) Gene; SPG26; GALNACT; Beta-1,4-N-Acetyl-Galactosaminyltransferase 1 wt Allele; GALGT; GalNAc-T; UDP-Gal:BetaGlcNAc Beta-1,4-N-Acetylgalactosaminyltransferase Transferase 1 Gene; Spastic Paraplegia 26 Gene; SIAT2;

NCIt definition : Human B4GALNT1 wild-type allele is located in the vicinity of 12q13.3 and is approximately 10 kb in length. This allele, which encodes beta-1,4 N-acetylgalactosaminyltransferase 1 protein, plays a role in the synthesis of glycosphingolipids. Mutation of the gene is associated with autosomal recessive spastic paraplegia 26.;

NCI Metathesaurus CUI : CL509067;

GenBank Accession Number : M83651;

Details

Origin ID

C128483;

UMLS CUI

C4283925;

Automatic exact mappings (from CISMeF team)
- (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase [MeSH Supplementary Concept]
- Beta-1,4-n-acetylgalactosaminyltransferase 1 [OMIM gene]
- Spastic paraplegia 26, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 26 [DO Concept]
OMIM relation
- Beta-1,4-n-acetylgalactosaminyltransferase 1 [OMIM gene]
See also inter- (CISMeF)
- Autosomal recessive spastic paraplegia type 26 [ORDO Disease]
- spastic paraplegia 26, autosomal recessive [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q13.3 [NCIt concept]
gene_is_element_in_pathway
- Ganglioside Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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