KIF4A Chromosome X
Kinesin family member 4A
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What This Gene Does
This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may also be involved in the organization of the central spindle prior to cytokinesis. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000090889
Associated Conditions (12)
KIF4A-related disorder
Corpus callosum
agenesis of
Intellectual disability
X-linked 100
Hydrocephalus
Ventriculomegaly
Multicystic kidney dysplasia
Congenital cerebellar hypoplasia
Taurodontism
microdontia
and dens invaginatus
Key Variants
RS376405554
Conflicting classifications of pathogenicity
KIF4A-related disorder, KIF4A-related disorder
Health Risk
RS764648571
Conflicting classifications of pathogenicity
Health Risk
RS776704047
Conflicting classifications of pathogenicity
Health Risk
RS1569234334
Likely pathogenic
Corpus callosum, agenesis of, Intellectual disability
Health Risk
RS1555949612
Pathogenic
Intellectual disability, X-linked 100, Intellectual disability
Health Risk
RS2085807720
Pathogenic
Intellectual disability, X-linked 100, Intellectual disability
Health Risk
RS2519648297
Pathogenic
Taurodontism, microdontia, and dens invaginatus
Health Risk
RS2519663637
Pathogenic
Intellectual disability, X-linked 100, Intellectual disability
Health Risk
RS2519663708
Pathogenic
Intellectual disability, X-linked 100, Intellectual disability
Health Risk
RS374370199
Pathogenic
Taurodontism, microdontia, and dens invaginatus
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376405554 | Health Risk | Conflicting classifications of pathogenicity | KIF4A-related disorder, KIF4A-related disorder |
| RS764648571 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776704047 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1569234334 | Health Risk | Likely pathogenic | Corpus callosum, agenesis of, Intellectual disability |
| RS1555949612 | Health Risk | Pathogenic | Intellectual disability, X-linked 100, Intellectual disability |
| RS2085807720 | Health Risk | Pathogenic | Intellectual disability, X-linked 100, Intellectual disability |
| RS2519648297 | Health Risk | Pathogenic | Taurodontism, microdontia, and dens invaginatus |
| RS2519663637 | Health Risk | Pathogenic | Intellectual disability, X-linked 100, Intellectual disability |
| RS2519663708 | Health Risk | Pathogenic | Intellectual disability, X-linked 100, Intellectual disability |
| RS374370199 | Health Risk | Pathogenic | Taurodontism, microdontia, and dens invaginatus |