CMT2B1

Chr 1AR

lamin A/C

Also known as: CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2

NCBI Gene: 4000

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]

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth disease, type 2B1MIM #605588
AR
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
4
Active trials
Clinical Summary— CMT2B1
💊
Clinical Trials
4 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CMT2B1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CMT2B1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Charcot-Marie-Tooth disease, type 2B1

MIM #605588

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C et al.·Brain
2016
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.
Ruggiero L et al.·Muscle Nerve
2015Case report
Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family.
Al-Harbi TM et al.·J Clin Neuromuscul Dis
2019Case report
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
De Sandre-Giovannoli A et al.·Am J Hum Genet
2002Functional
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Bouhouche A et al.·Brain
2007
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Polycystic Ovary SyndromeFamilial Partial LipodystrophyLMNA (LaMin Nuclear A) Related Disorders

Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS)

NOT YET RECRUITING
NCT07412028Phase NAAssistance Publique - Hôpitaux de ParisStarted 2026-02
Genetic analysisBiological analysisimaging test
LaminopathiesEmery Dreifuss Muscular Dystrophy 2LMNA-Related Congenital Muscular Dystrophy

Modifying Factors in Striated Muscle Laminopathies

RECRUITING
NCT05394506Phase NAInstitut National de la Santé Et de la Recherche Médicale, FranceStarted 2022-09-08
Skin BiopsyMuscle biopsy
Lipodystrophy

Assess the Possibility of Diagnosing Diabetes and Rediabetes Following Oral Induced Hyperglycemia in Patients With Dunnigan's Partial Familial Lipodystrophy by Replacing 75 g of Glucose With a Standardized Carbohydrate Breakfast and Continuous Interstitial Monitoring Glucose)

RECRUITING
NCT05789251Phase NACentre Hospitalier Universitaire de la RéunionStarted 2023-06-19
Standardized breakfast
LaminopathiesEmerinopathies

Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)

RECRUITING
NCT03058185Pitié-Salpêtrière HospitalStarted 2013-07-11

External Resources

Links to major genomics databases and tools