MCLMR

Chr 10AD

kinesin family member 11

Also known as: EG5, HKSP, KNSL1, MCLMR, TRIP5

NCBI Gene: 3832

This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual developmentMIM #152950
AD
0
Active trials
0
Pathogenic / LP
0
ClinVar variants
7
Pubs (1 yr)
—
Missense Z
—
LOEUF
Clinical Summary— MCLMR
Some data sources returned errors (2)

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

MCLMR · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development.
Gonzalez T et al.·Am J Med Genet A
2024Cohort
KIF11 Inhibition Induces Retinopathy Progression by Affecting Photoreceptor Cell Ciliogenesis and Cell Cycle Regulation in Development.
Xu Y et al.·Adv Biol (Weinh)
2025
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis
Peng J et al.·BMC Ophthalmol
2025Case report
Loss-of-function of kinesin-5 KIF11 causes microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest.
Zhou Y et al.·Exp Cell Res
2024
Novel KIF11 Mutation Associated with Microcephaly, Chorioretinopathy and Impaired Intellectual Development: 20 Years of Follow-Up.
Yaskanich AH et al.·Children (Basel)
2025Natural history
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients