LMNA lamin A/C

Gene ID: 4000, updated on 24-Mar-2023
Gene type: protein coding
Also known as: FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; MADA; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B

Summary

The protein encoded by this gene is part of the nuclear lamina, 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, May 2022]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy MedGen: C0410190OMIM: 181350GeneReviews: Emery-Dreifuss Muscular Dystrophy	See labs
Charcot-Marie-Tooth disease type 2B1 MedGen: C1854154OMIM: 605588GeneReviews: Not available	See labs
Congenital muscular dystrophy due to LMNA mutation MedGen: C2750785OMIM: 613205GeneReviews: Not available	See labs
Dilated cardiomyopathy 1A MedGen: C1449563OMIM: 115200GeneReviews: Dilated Cardiomyopathy Overview, LMNA-Related Dilated Cardiomyopathy	See labs
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MedGen: C0796031OMIM: 212112GeneReviews: Not available	See labs
Emery-Dreifuss muscular dystrophy 3, autosomal recessive MedGen: C2750035OMIM: 616516GeneReviews: Not available	See labs
Familial partial lipodystrophy, Dunnigan type MedGen: C1720860OMIM: 151660GeneReviews: Not available	See labs
Heart-hand syndrome, Slovenian type MedGen: C1857829OMIM: 610140GeneReviews: Not available	See labs
Hutchinson-Gilford syndrome MedGen: C0033300OMIM: 176670GeneReviews: Hutchinson-Gilford Progeria Syndrome	See labs
Mandibuloacral dysplasia with type A lipodystrophy MedGen: C5399785OMIM: 248370GeneReviews: Not available	See labs
Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview	See labs
Restrictive dermopathy 2 MedGen: C5676942OMIM: 619793GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2016-01-18) ClinGen Genome Curation Page Haploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2016-01-18) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 1q22

Sequence:: Chromosome: 1; NC_000001.11 (156082573..156140081)

Total number of exons:: 20

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for LMNA variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
Human Intermediate Filament Database LMNA (lamin A)
Human Intermediate Filament Database LMNA (lamin C1)
Human Intermediate Filament Database LMNA (lamin C2)
IPN Mutations, LMNA
LMNA homepage - Leiden Muscular Dystrophy pages
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView
The UMD-LMNA mutations database

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