full name
lamin A/C
synonyms
CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1, LMNA, ENSG00000160789
HGNC
HGNC:6636
Entrez Gene
Gene:4000
ENSEMBL
ENSG00000160789
location
chr: 1
start: 156052369
stop: 156109880
strand: +
OMIM
OMIM:150330:
LMNA
(Autosomal dominant inheritance)
OMIM:115200:
Cardiomyopathy, dilated, 1A
OMIM:605588:
Charcot-Marie-Tooth disease, type 2B1
OMIM:181350:
Emery-Dreifuss muscular dystrophy 2, AD
OMIM:616516:
Emery-Dreifuss muscular dystrophy 3, AR
OMIM:610140:
Heart-hand syndrome, Slovenian type
OMIM:176670:
Hutchinson-Gilford progeria
OMIM:151660:
Lipodystrophy, familial partial, type 2
OMIM:212112:
Malouf syndrome
OMIM:248370:
Mandibuloacral dysplasia
OMIM:613205:
Muscular dystrophy, congenital
OMIM:159001:
Muscular dystrophy, limb-girdle, type 1B
OMIM:275210:
Restrictive dermopathy, lethal
transcripts
NR_047544.1
NM_170707.3
NM_170708.3
NM_005572.3
NM_001257374.1
NR_047545.1
pathways
Apoptosis
[NCBI:83060]
[KEGG:hsa04210]
[NCBI:1270262]
[REACTOME:R-HSA-109581]
[PUBMED:12189384]
[PUBMED:20533903]
[PUBMED:18208375]
[PUBMED:22429822]
[PUBMED:15218528]
[PUBMED:24769728]
[PUBMED:18023214]
[PUBMED:25526085]
[PUBMED:23070002]
[PUBMED:15654015]
[PUBMED:15601572]
[PUBMED:14561771]
[PUBMED:24278747]
[PUBMED:21914490]
[PUBMED:22465226]
[PUBMED:21145844]
[PUBMED:12838338]
[PUBMED:18238895]
[PUBMED:12949498]
[PUBMED:18304445]
[PUBMED:14737178]
[PUBMED:26231733]
[PUBMED:9916983]
[PUBMED:14634621]
[PUBMED:19770840]
[PUBMED:22075987]
[PUBMED:4561027]
[PUBMED:20075940]
[PUBMED:9894605]
[PUBMED:26615431]
[PUBMED:12505355]
[PUBMED:11520933]
[PUBMED:19148180]
[PUBMED:16397578]
[PUBMED:15719025]
[PUBMED:15322527]
[PUBMED:15725726]
[PUBMED:12209154]
[PUBMED:23803157]
Apoptotic cleavage of cellular proteins
[NCBI:1270288]
[REACTOME:R-HSA-111465]
[PUBMED:17254298]
[PUBMED:17599937]
[PUBMED:12655297]
Apoptotic execution phase
[NCBI:1270287]
[REACTOME:R-HSA-75153]
[PUBMED:12655297]
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
[NCBI:117293]
[KEGG:hsa05412]
[PUBMED:16823481]
[PUBMED:19205777]
[PUBMED:11716909]
[PUBMED:12270949]
[PUBMED:18382419]
[PUBMED:16101641]
[PUBMED:16124859]
[PUBMED:17413274]
Breakdown of the nuclear lamina
[NCBI:1270291]
[REACTOME:R-HSA-352238]
[PUBMED:12655297]
Caspase cascade in apoptosis
[NCBI:137974]
[Pathway Interaction Database:caspase_pathway]
[PUBMED:7774019]
[PUBMED:8626669]
[PUBMED:9850096]
[PUBMED:11803376]
[PUBMED:15189451]
[PUBMED:10564664]
[PUBMED:9642276]
[PUBMED:10567584]
[PUBMED:12419244]
[PUBMED:11423904]
[PUBMED:9422506]
[PUBMED:11438643]
[PUBMED:9070648]
[PUBMED:9588194]
[PUBMED:11085743]
[PUBMED:9298992]
[PUBMED:9933635]
[PUBMED:9528810]
[PUBMED:9323209]
[PUBMED:10809769]
[PUBMED:8700869]
[PUBMED:9463409]
[PUBMED:10497198]
[PUBMED:11953316]
[PUBMED:9422513]
[PUBMED:10409650]
[PUBMED:11463840]
[PUBMED:10611247]
[PUBMED:8605870]
Cell Cycle
[NCBI:1269741]
[REACTOME:R-HSA-1640170]
Cell Cycle, Mitotic
[NCBI:1269763]
[REACTOME:R-HSA-69278]
Depolymerisation of the Nuclear Lamina
[NCBI:1269819]
[REACTOME:R-HSA-4419969]
[PUBMED:23212477]
[PUBMED:22134922]
[PUBMED:2188730]
[PUBMED:19494126]
[PUBMED:8034666]
[PUBMED:2188731]
[PUBMED:21413788]
[PUBMED:19494125]
[PUBMED:2344612]
[PUBMED:8463284]
[PUBMED:22986494]
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
[NCBI:1457789]
[REACTOME:R-HSA-8862803]
[PUBMED:8090221]
[PUBMED:12684440]
[PUBMED:22899714]
[PUBMED:10830966]
[PUBMED:7592934]
[PUBMED:19519302]
Dilated cardiomyopathy
[NCBI:121494]
[KEGG:hsa05414]
[PUBMED:11524405]
[PUBMED:11805847]
[PUBMED:12270949]
[PUBMED:14522402]
[PUBMED:19017683]
[PUBMED:15146239]
[PUBMED:18672201]
[PUBMED:19273156]
[PUBMED:19246813]
[PUBMED:11716909]
[PUBMED:16817756]
Disease
[NCBI:1268854]
[REACTOME:R-HSA-1643685]
Diseases of signal transduction
[NCBI:1268855]
[REACTOME:R-HSA-5663202]
[PUBMED:12509752]
Hypertrophic cardiomyopathy (HCM)
[NCBI:114229]
[KEGG:hsa05410]
[PUBMED:11805847]
[PUBMED:18572189]
[PUBMED:14711353]
[PUBMED:19136482]
[PUBMED:18056765]
[PUBMED:11225594]
[PUBMED:12844200]
[PUBMED:10615904]
[PUBMED:11716909]
[PUBMED:11371514]
[PUBMED:12270949]
IRE1alpha activates chaperones
[NCBI:1268759]
[REACTOME:R-HSA-381070]
[PUBMED:18048764]
[PUBMED:18038217]
[PUBMED:18436705]
Initiation of Nuclear Envelope Reformation
[NCBI:1269828]
[REACTOME:R-HSA-2995383]
[PUBMED:18628300]
[PUBMED:19234477]
M Phase
[NCBI:1269810]
[REACTOME:R-HSA-68886]
Meiosis
[NCBI:1269865]
[REACTOME:R-HSA-1500620]
[PUBMED:20051984]
[PUBMED:20364103]
[PUBMED:16543383]
[PUBMED:18948708]
Meiotic synapsis
[NCBI:1269867]
[REACTOME:R-HSA-1221632]
[PUBMED:20364103]
[PUBMED:18948708]
Metabolism of proteins
[NCBI:1268677]
[REACTOME:R-HSA-392499]
Mitotic Anaphase
[NCBI:1269825]
[REACTOME:R-HSA-68882]
Mitotic Metaphase and Anaphase
[NCBI:1269823]
[REACTOME:R-HSA-2555396]
Mitotic Prophase
[NCBI:1269811]
[REACTOME:R-HSA-68875]
Neurodegenerative Diseases
[NCBI:1457788]
[REACTOME:R-HSA-8863678]
[PUBMED:26848654]
Nuclear Envelope Breakdown
[NCBI:1269815]
[REACTOME:R-HSA-2980766]
[PUBMED:19234477]
Nuclear Envelope Reassembly
[NCBI:1269827]
[REACTOME:R-HSA-2995410]
[PUBMED:19234477]
Oncogenic MAPK signaling
[NCBI:1457781]
[REACTOME:R-HSA-6802957]
[PUBMED:25907612]
[PUBMED:24651010]
[PUBMED:24202393]
[PUBMED:25435214]
[PUBMED:21993244]
[PUBMED:24814062]
[PUBMED:22589270]
Programmed Cell Death
[NCBI:1270261]
[REACTOME:R-HSA-5357801]
[PUBMED:25236395]
Signaling by BRAF and RAF fusions
[NCBI:1457786]
[REACTOME:R-HSA-6802952]
[PUBMED:18974108]
[PUBMED:24135138]
[PUBMED:22745804]
[PUBMED:25907612]
[PUBMED:20526349]
[PUBMED:15630448]
[PUBMED:25204415]
[PUBMED:24345920]
[PUBMED:21424530]
[PUBMED:23583981]
Unfolded Protein Response (UPR)
[NCBI:1268756]
[REACTOME:R-HSA-381119]
[PUBMED:18436705]
[PUBMED:18038217]
[PUBMED:27067637]
[PUBMED:16365312]
[PUBMED:18048764]
[PUBMED:15952902]
XBP1(S) activates chaperone genes
[NCBI:1268760]
[REACTOME:R-HSA-381038]
[PUBMED:16461360]
[PUBMED:16539657]
[PUBMED:17612490]
[PUBMED:14559994]
[PUBMED:18664523]
