GLMN wt Allele

Preferred Label : GLMN wt Allele;

NCIt synonyms : GLML; FKBPAP; Glomulin, FKBP Associated Protein wt Allele; GVM; VMGLOM; FAP48; FAB68; FKBP-Associated Protein, 68-kD Gene; Venous Malformation with Glomus Cells Gene; FKBP-Associated Protein, 48-kD Gene;

NCIt definition : Human GLMN wild-type allele is located in the vicinity of 1p22.1 and is approximately 53 kb in length. This allele, which encodes glomulin protein, plays a role in smooth muscle cellular organization and is essential for development of the vasculature. Mutations in this gene are involved in the formation of subungual glomus tumors.;

GenBank Accession Number : NM_007070;

Details

Origin ID

C54267;

UMLS CUI

C1705144;

False automatic mappings
- Glomuvenous malformation [ORDO Disease]
OMIM relation
- Glomulin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 1: 92476565-92424068 [NCIt concept]
gene_in_chromosomal_location
- 1p22.1 [NCIt concept]
gene_plays_role_in_process
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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