LMNA lamin A/C
Gene ID: 4000, updated on 27-Nov-2024Gene type: protein coding
Also known as: FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; MADA; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B
- See all available tests in GTR for this gene
- Go to complete Gene record for LMNA
- Go to Variation Viewer for LMNA variants
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 |
|---|---|
| Charcot-Marie-Tooth disease type 2B1 | not available |
| Congenital muscular dystrophy due to LMNA mutation | not available |
| Dilated cardiomyopathy 1A MedGen: C1449563OMIM: 115200GeneReviews: Dilated Cardiomyopathy Overview, LMNA-Related Dilated Cardiomyopathy | not available |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | not available |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | not available |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | not available |
| Familial partial lipodystrophy, Dunnigan type | not available |
| Heart-hand syndrome, Slovenian type | not available |
| Hutchinson-Gilford syndrome | not available |
| Mandibuloacral dysplasia with type A lipodystrophy | not available |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | not available |
| Restrictive dermopathy 2 | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-12-14) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-12-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 1q22
- Sequence:
- Chromosome: 1; NC_000001.11 (156082573..156140081)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LMNA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink 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)
- LMNA homepage - Leiden Muscular Dystrophy pages
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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