FKRP wt Allele

Preferred Label : FKRP wt Allele;

NCIt synonyms : MDDGC5; MDDGB5; Fukutin Related Protein wt Allele; MDDGA5; LGMDR9; MDC1C; FKTR; LGMD2I;

NCIt definition : Human FKRP wild-type allele is located in the vicinity of 19q13.32 and is approximately 32 kb in length. This allele, which encodes ribitol 5-phosphate transferase FKRP, is involved in the transfer of ribitol-phosphate certain glycoproteins. Mutations in the gene are associated with FKRP-related congenital muscular dystrophy, Walker-Warburg syndrome and limb-girdle muscular dystrophy type 2I.;

GenBank Accession Number : AJ314847;

Details

Origin ID

C201166;

OMIM relation
- Fukutin-related protein [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.32 [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Protein Glycosylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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