Aliases for LMNA Gene
- Lamin A/C 2 3 5
- Mandibuloacral Dysplasia Type A 2 3
- Lamin A/C-Like 1 2 3
- Prelamin-A/C 3 4
- LMN1 3 4
- Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant) 2
- Cardiomyopathy, Dilated 1A (Autosomal Dominant) 2
- Epididymis Secretory Sperm Binding Protein 3
- Progeria 1 (Hutchinson-Gilford Type) 2
- Renal Carcinoma Antigen NY-REN-32 3
- 70 KDa Lamin 3
- CMT2B1 3
- LGMD1B 3
- CDCD1 3
External Ids for LMNA Gene
Previous HGNC Symbols for LMNA Gene
Previous GeneCards Identifiers for LMNA Gene
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
GeneCards Summary for LMNA Gene
LMNA (Lamin A/C) is a Protein Coding gene. Diseases associated with LMNA include Hutchinson-Gilford Progeria Syndrome and Cardiomyopathy, Dilated, 1A. Among its related pathways are Apoptosis and survival Caspase cascade and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is LMNB1.
UniProtKB/Swiss-Prot Summary for LMNA Gene
Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920).
Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence.