Lamin-A/C - CISMeF

Preferred Label : Lamin-A/C;

NCIt synonyms : Lamin-A; Lamin-C; Renal Carcinoma Antigen NY-REN-32; Lamin A; 70 kDa Lamin; Lamin C;

NCIt definition : Lamin-A/C (646 aa, 72 kDa) is encoded by the human LMNA gene. This protein plays a role in the formation of the nuclear lamina.;

NCIt note : UniProt considers lamin-A the canonical sequence; lamin-C (572 aa, 65 kDa) has a different amino acid sequence at residues 567-572 and is missing residues 573-646.; Lamin-A and lamin-C are present in equal amounts in the nuclear lamina and form dimers. (UniProt);

Détails

Origin ID

C136976;

UMLS CUI

C1530820;

Automatic exact mappings (from CISMeF team)
- Lamin [LOINC component]
- Lamin A [FMA entity]
- Lamin A [MeSH concept]
- Lamin C [FMA entity]
- Lamin a/C [OMIM gene]
- Laminar (qualifier value) [SNOMED CT concept]
- anatomical projection [UBERON concept]
- lamin A/C [ORDO Gene]
- lamin A/C [HGNC gene]
- lamin C [MeSH concept]
- lamin C [MeSH Supplementary Concept]
- lamin type a [MeSH Descriptor]
- lamina [UBERON concept]
- lamins [MeSH concept]
- lamins [MeSH Descriptor]
- nervous system cell part layer [UBERON concept]
OMIM relation
- Lamin a/C [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- LMNA protein, human [MeSH Supplementary Concept]
- LMNA protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Cytoskeletal Gene [NCIt concept]
- Intermediate Filament Gene [NCIt concept]
- LMNA Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoskeleton [NCIt concept]
- Intermediate Filament [NCIt concept]
- Nuclear Lamina [NCIt concept]
gene_product_has_biochemical_function
- Nuclear Matrix Protein [NCIt concept]
- Scaffolding Protein [NCIt concept]
gene_product_has_chemical_classification
- Lamin [NCIt concept]
gene_product_is_element_in_pathway
- Apoptosis Pathway [NCIt concept]
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Caspase Cascade Pathway [NCIt concept]
- Caspase Cascade in Apoptosis [NCIt concept]
- DR3 and DR4/5 Mediated Apoptosis Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Fas Signaling Pathway BioCarta [NCIt concept]
- HIV-I Nef in Apoptosis Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
- TNFR1 Signaling Pathway [NCIt concept]
gene_product_is_physical_part_of
- Prelamin-A/C [NCIt concept]
gene_product_plays_role_in_biological_process
- Apoptosis [NCIt concept]
- Cell Aging [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients