CMT2A1

Chr 1AD

kinesin family member 1B

Also known as: CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1

NCBI Gene: 23095

Enables plus-end-directed microtubule motor activity. Involved in apoptotic process involved in development and mitochondrion transport along microtubule. Is active in mitochondrion. Implicated in Charcot-Marie-Tooth disease type 2A1; hepatocellular carcinoma; multiple sclerosis; neuroblastoma; and ovary epithelial cancer. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth disease, type 2A1MIM #118210
AD
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CMT2A1
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CMT2A1?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

CMT2A1 · 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 2A1

MIM #118210

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools