Preferred Label : LAMC2 wt Allele;
NCIt synonyms : LAMB2T; Laminin 5, Gamma-2 Subunit Gene; Laminin, Gamma 2 (Nicein (100kD), Kalinin (105kD), BM600 (100kD), Herlitz Junctional
Epidermolysis Bullosa)) Gene; Laminin, Nicein, Beta-2 Gene; CSF; Lam5, Gamma-2 Subunit Gene; EBR2; Laminin, Gamma-2 Gene; Laminin, Gamma 2 wt Allele; B2T; EBR2A; LAMNB2; BM600;
NCIt definition : Human LAMC2 wild-type allele is located within 1q25-q31 and is approximately 59 kb
in length. This allele, which encodes laminin subunit gamma-2 protein, is involved
in both the development of the epidermis and extracellular matrix organization. Mutation
of the gene is associated with Herlitz junctional epidermolysis bullosa.;
NCIt note : Overexpression of the LAMC2 gene may be associated with anaplastic thyroid carcinoma.
(JCEM 2013; 99:http://dx.doi.org/10.1210/jc.2013-2994.);
GenBank Accession Number : Z15008;
Origin ID : C116276;
UMLS CUI : C3889436;
Automatic exact mappings (from CISMeF team)
- kalinin [MeSH Supplementary Concept]
- OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
