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
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: cytoplasm; cytosol; intermediate filament; lamin filament; nuclear envelope; nuclear lamina; nuclear matrix; nuclear membrane; nuclear speck; nucleoplasm; nucleus; perinuclear region of cytoplasm
Molecular Function: protein binding; protein phosphatase 1 binding; structural molecule activity
Biological Process: apoptosis; cell structure disassembly during apoptosis; cellular protein metabolic process; establishment and/or maintenance of microtubule cytoskeleton polarity; mitotic cell cycle; mitotic nuclear envelope disassembly; mitotic nuclear envelope reassembly; muscle development; positive regulation of osteoblast differentiation; programmed cell death; regulation of cell migration; response to mechanical stimulus; spermatogenesis; sterol regulatory element binding protein nuclear translocation; unfolded protein response; ventricular cardiac muscle cell development
Disease: Cardiomyopathy, Dilated, 1a; Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism; Charcot-marie-tooth Disease, Axonal, Type 2b1; Emery-dreifuss Muscular Dystrophy 2, Autosomal Dominant; Emery-dreifuss Muscular Dystrophy 3, Autosomal Recessive; Heart-hand Syndrome, Slovenian Type; Hutchinson-gilford Progeria Syndrome; Lipodystrophy, Familial Partial, Type 2; Mandibuloacral Dysplasia With Type A Lipodystrophy; Muscular Dystrophy, Congenital, Lmna-related; Muscular Dystrophy, Limb-girdle, Type 1b; Restrictive Dermopathy, Lethal
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 |
>290 publications with LMNA and Cardiovascular Diseases |
Progeria Antibodies |
>284 publications with LMNA and Progeria |
Nervous System Diseases Antibodies |
>249 publications with LMNA and Nervous System Diseases |
Heart Diseases Antibodies |
>249 publications with LMNA and Heart Diseases |
Cardiomyopathy, Dilated Antibodies |
>210 publications with LMNA and Cardiomyopathy, Dilated |
Muscular Dystrophy, Emery-Dreifuss Antibodies |
>147 publications with LMNA and Muscular Dystrophy, Emery-Dreifuss |
Lipodystrophy, Familial Partial Antibodies |
>140 publications with LMNA and Lipodystrophy, Familial Partial |
Death, Sudden, Cardiac Antibodies |
>56 publications with LMNA and Death, Sudden, Cardiac |
Muscular Dystrophies, Limb-Girdle Antibodies |
>41 publications with LMNA and Muscular Dystrophies, Limb-Girdle |
Heart Block Antibodies |
>36 publications with LMNA and Heart Block |
Organs/Tissues associated with anti-LMNA antibody
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