BC033088
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Homo sapiens lamin A/C, mRNA
NCBI Official Synonym Full Names
lamin A/C
NCBI Official Synonym Symbols
FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B [Similar Products]
NCBI Protein Information
lamin
UniProt Protein Name
Prelamin-A/C
UniProt Synonym Protein Names
Lamin-A/CAlternative name(s):70 kDa lamin; Renal carcinoma antigen NY-REN-32
UniProt Synonym Gene Names
UniProt Entry Name
LMNA_HUMAN
NCBI Summary for LMNA
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]
UniProt Comments for LMNA
lamin A/C: nuclear lamins are intermediate filament proteins that constitute the lattice-like matrix at the inner face of the nuclear membrane that underlies the nuclear envelop. The lamins, highly conserved throughout evolution, are encoded by three genes in the human: LMNA, LMNB1, and LMNB2. The A-type lamins (lamin A/C) are developmentally regulated and are generally expressed in differentiated cells. The anchoring of chromatin to the nuclear lamina is involved in the control of gene expression and in DNA replication and repair. During mitosis, the nuclear lamina is reversibly disassembled as the lamin proteins are phosphorylated. Cleaved by caspase-6 during apoptosis into a 40-45 kDa and a28 kDa fragment.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 1q22
Cellular Component: nucleoplasm; nuclear lamina; nuclear membrane; perinuclear region of cytoplasm; cytoplasm; lamin filament; intermediate filament; nuclear speck; nuclear envelope; cytosol; nucleus
Molecular Function: protein binding; structural molecule activity
Biological Process: mitotic nuclear envelope reassembly; muscle development; unfolded protein response; apoptosis; ventricular cardiac muscle cell development; mitotic nuclear envelope disassembly; regulation of cell migration; unfolded protein response, activation of signaling protein activity; cellular protein metabolic process; sterol regulatory element binding protein nuclear translocation; mitotic cell cycle; establishment and/or maintenance of microtubule cytoskeleton polarity; cell structure disassembly during apoptosis
Disease: Heart-hand Syndrome, Slovenian Type; Emery-dreifuss Muscular Dystrophy 2, Autosomal Dominant; Restrictive Dermopathy, Lethal; Muscular Dystrophy, Congenital, Lmna-related; Mandibuloacral Dysplasia With Type A Lipodystrophy; Charcot-marie-tooth Disease, Axonal, Type 2b1; Emery-dreifuss Muscular Dystrophy 3, Autosomal Recessive; Lipodystrophy, Familial Partial, Type 2; Hutchinson-gilford Progeria Syndrome; Muscular Dystrophy, Limb-girdle, Type 1b; Cardiomyopathy, Dilated, 1a; Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Research Articles on LMNA
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Products associated with LMNA peptide
Diseases associated with LMNA peptide
Disease Name |
Pubmed Publications |
Cardiovascular Diseases Antibodies |
>282 publications with LMNA and Cardiovascular Diseases |
Progeria Antibodies |
>271 publications with LMNA and Progeria |
Nervous System Diseases Antibodies |
>247 publications with LMNA and Nervous System Diseases |
Heart Diseases Antibodies |
>244 publications with LMNA and Heart Diseases |
Cardiomyopathy, Dilated Antibodies |
>203 publications with LMNA and Cardiomyopathy, Dilated |
Muscular Dystrophy, Emery-Dreifuss Antibodies |
>144 publications with LMNA and Muscular Dystrophy, Emery-Dreifuss |
Lipodystrophy, Familial Partial Antibodies |
>137 publications with LMNA and Lipodystrophy, Familial Partial |
Death, Sudden, Cardiac Antibodies |
>53 publications with LMNA and Death, Sudden, Cardiac |
Muscular Dystrophies, Limb-Girdle Antibodies |
>40 publications with LMNA and Muscular Dystrophies, Limb-Girdle |
Heart Block Antibodies |
>35 publications with LMNA and Heart Block |
Organs/Tissues associated with LMNA peptide
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