LORICRIN wt Allele

Preferred Label : LORICRIN wt Allele;

NCIt synonyms : Loricrin Cornified Envelope Precursor Protein wt Allele; LRN; Loricrin Gene; LOR;

NCIt related terms : LOR wt Allele;

NCIt definition : Human LORICRIN wild-type allele is located in the vicinity of 1q21.3 and is approximately 2 kb in length. This allele, which encodes loricrin protein, is involved in the cell envelope structure of mature keratinocytes. Mutations in this gene are associated with progressive symmetric erythrokeratoderma and Vohwinkel syndrome with ichthyosis.;

GenBank Accession Number : M61120;

Details

Origin ID

C112146;

UMLS CUI

C3829257;

Automatic exact mappings (from CISMeF team)
- Loricrin [OMIM gene]
OMIM relation
- Loricrin [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]
gene_in_chromosomal_location
- 1q21.3 [NCIt concept]
gene_plays_role_in_process
- Keratinocyte Differentiation [NCIt concept]

Keyword's position in hierarchy(ies) :

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