POGLUT1 wt Allele

Preferred Label : POGLUT1 wt Allele;

NCIt synonyms : KDELC Family Like 1 Gene; MDS010; Protein O-Glucosyltransferase 1 wt Allele; LGMD2Z; Rumi; LGMDR21; C3orf9; CLP46; Rumi, Drosophila, Homolog of Gene; X 010 Protein Gene; MGC32995; UNQ490/PRO1006; MDSRP; CAP10-Like Protein, 46-kD Gene; KTELC1; KTEL (Lys-Tyr-Glu-Leu) Containing 1 Gene; hCLP46; Chromosome 3 Open Reading Frame 9 Gene; KDELCL1;

NCIt definition : Human POGLUT1 wild-type allele is located in the vicinity of 3q13.33 and is approximately 26 kb in length. This allele, which encodes protein O-glucosyltransferase 1 protein, plays a role in protein O-glucosylation and gastrulation. Mutations in the gene are associated with Dowling-Degos disease 4 and autosomal recessive limb-girdle, autosomal recessive muscular dystrophy 21.;

NCI Metathesaurus CUI : CL1926603;

GenBank Accession Number : BC030614;

Details

Origin ID

C204522;

UMLS CUI

C5890848;

OMIM relation
- Protein o-glucosyltransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q13.33 [NCIt concept]
gene_is_element_in_pathway
- O-Mannosyl Glycan Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Development [NCIt concept]
- Embryogenesis [NCIt concept]
- Glycosylation [NCIt concept]
- Histogenic Process [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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