lamin A/C

Summary
Gene Symbol
  • LMNA
Organism
Homo sapiens (human)
NCBI Gene
4000
PubChem
4000
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cardiomyopathy
  • Charcot-Marie-Tooth disease
  • Coiled coil
  • Congenital muscular dystrophy
  • Direct protein sequencing
  • Disease variant
  • Emery-Dreifuss muscular dystrophy
  • Glycoprotein
  • Intermediate filament
  • Isopeptide bond
  • Limb-girdle muscular dystrophy
  • Methylation
  • Neurodegeneration
  • Nucleus
  • Phosphoprotein
  • Prenylation
  • Proteomics identification
  • Reference proteome
  • Ubl conjugation
Proteins
Displaying all 3 entries
UniProt Protein Name
Q5TCI8
A0A384MQX1
P02545
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Lamin
Functional Category
  • E: Amino acid transport and metabolism
  • Q: Secondary metabolites biosynthesis, transport and catabolism
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying entries 1 - 10 of 29 in total
DO ID Disease Name Source
DOID:0050431 arrhythmogenic right ventricular cardiomyopathy
DOID:0050440 familial partial lipodystrophy
DOID:0050557 congenital muscular dystrophy
DOID:0050820 atrioventricular block
DOID:0070202 familial partial lipodystrophy type 2
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2
DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3
DOID:0070370 restrictive dermopathy 2
DOID:0080334 aortic valve disease 2
DOID:0081128 mandibuloacral dysplasia type A lipodystrophy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025