NP_733821.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
lamin isoform A
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; 70 kDa lamin; prelamin-A/C; lamin A/C-like 1; renal carcinoma antigen NY-REN-32
UniProt Protein Name
Prelamin-A/C
UniProt Synonym Protein Names
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; nucleus; cytosol
Molecular Function: protein binding; structural molecule activity
Biological Process: muscle development; mitotic nuclear envelope reassembly; unfolded protein response; apoptosis; ventricular cardiac muscle cell development; mitotic nuclear envelope disassembly; regulation of cell migration; cellular protein metabolic process; unfolded protein response, activation of signaling protein activity; 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; Mandibuloacral Dysplasia With Type A Lipodystrophy; Muscular Dystrophy, Congenital, Lmna-related; Charcot-marie-tooth Disease, Axonal, Type 2b1; Emery-dreifuss Muscular Dystrophy 3, Autosomal Recessive; Lipodystrophy, Familial Partial, Type 2; Hutchinson-gilford Progeria Syndrome; Cardiomyopathy, Dilated, 1a; Muscular Dystrophy, Limb-girdle, Type 1b; Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Research Articles on LMNA
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Products associated with anti-LMNA antibody
Pathways associated with anti-LMNA antibody
Diseases associated with anti-LMNA antibody
Disease Name |
Pubmed Publications |
Cardiovascular Diseases Antibodies |
>265 publications with LMNA and Cardiovascular Diseases |
Progeria Antibodies |
>250 publications with LMNA and Progeria |
Heart Diseases Antibodies |
>233 publications with LMNA and Heart Diseases |
Cardiomyopathy, Dilated Antibodies |
>193 publications with LMNA and Cardiomyopathy, Dilated |
Muscular Dystrophy, Emery-Dreifuss Antibodies |
>138 publications with LMNA and Muscular Dystrophy, Emery-Dreifuss |
Lipodystrophy, Familial Partial Antibodies |
>129 publications with LMNA and Lipodystrophy, Familial Partial |
Death, Sudden, Cardiac Antibodies |
>47 publications with LMNA and Death, Sudden, Cardiac |
Muscular Dystrophies, Limb-Girdle Antibodies |
>38 publications with LMNA and Muscular Dystrophies, Limb-Girdle |
Heart Block Antibodies |
>32 publications with LMNA and Heart Block |
Werner Syndrome Antibodies |
>28 publications with LMNA and Werner Syndrome |
Organs/Tissues associated with anti-LMNA antibody
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