PLEC wt Allele

Preferred Label : PLEC wt Allele;

NCIt synonyms : LGMD2Q; HD1; PLTN; PLEC1; EBSO; EBS1; PCN; Plectin wt Allele; PLEC1b;

NCIt definition : Human PLEC wild-type allele is located in the vicinity of 8q24 and is approximately 62 kb in length. This allele, which encodes plectin protein, is involved in anchoring intermediate filaments to desmosomes or hemidesmosomes. Mutations in this gene are associated with epidermolysis bullosa simplex, ogna type and epidermolysis bullosa simplex with pyloric atresia.;

NCIt note : Plectin is expressed as several protein isoforms in a wide range of cell types and tissues.;

GenBank Accession Number : NM_000445;

Details

Origin ID

C122742;

UMLS CUI

C4050150;

Automatic exact mappings (from CISMeF team)
- Chlorinated naphthalene [ICD-11 Extension code]
- Histone deacetylase 1 [OMIM gene]
- Limb-girdle muscular dystrophy 2Q, plectin deficiency [ICD-11 More detail]
- Muscular dystrophy, limb-girdle, autosomal recessive 17 [OMIM Phenotype]
- Plectin [OMIM gene]
- Plectin-related limb-girdle muscular dystrophy R17 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2Q [DO Concept]
- pericentrin [ORDO Gene]
- plectin [ORDO Gene]
False automatic mappings
- pregnenolone carbonitrile [MeSH Descriptor]
OMIM relation
- Plectin [OMIM gene]
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]

Keyword's position in hierarchy(ies) :

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