Preferred Label : LMNA wt Allele;
NCIt synonyms : CMD1A; LMN1; Cardiomyopathy, Dilated 1A (Autosomal Dominant); LFP; LGMD1B; Lamin-A/C Gene; CDDC; LMNC; PRO1; CMT2B1; FPLD; LMNL1; HGPS; MADA; Lamin A/C-Like 1 Gene; FPLD2; EMD2; Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant) Gene; LDP1; Progeria 1 (Hutchinson-Gilford Type) Gene; CDCD1; Mandibuloacral Dysplasia Type A Gene; FPL; IDC; Lamin A/C wt Allele;
NCIt definition : Human LMNA wild-type allele is located within 1q22 and is approximately 25 kb in length.
This allele, which encodes prelamin-A/C protein, plays a role in nuclear stability
and chromatin structure. Mutations in the LMNA gene are associated with Charcot-Marie-Tooth
disease, type 2B1, Hutchinson-Gilford progeria syndrome, Emery-Dreifuss muscular dystrophy,
Malouf syndrome, autosomal dominant familial partial lipodystrophy type 2, lethal
restrictive dermopathy, autosomal dominant limb girdle muscular dystrophy 1B and autosomal
dominant dilated cardiomyopathy 1A..;
GenBank Accession Number : NM_170707;
Origin ID : C61149;
UMLS CUI : C1881349;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
