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Target intelligence / Profile preview
Kinesin family member 21A (KIF21A)
- Target
- KIF21A
- Molecular classification
- Motor protein, Enzyme (molecular motor with ATPase activity), Kinesin superfamily (Kinesin-4 family), Cytoskeletal protein
01
Overview
Kinesin family member 21A (KIF21A) is a microtubule-dependent motor protein belonging to the kinesin-4 family. It plays a pivotal role in intracellular transport and cytoskeleton organization, especially in neurons where it regulates microtubule polymerization and axon outgrowth by inhibiting microtubule extension at the cell cortex. KIF21A is essential in neuronal development, glomerular filtration barrier function, and cellular organization. The protein’s dysfunction due to genetic mutations causes human diseases such as congenital fibrosis of extraocular muscles type 1 (CFEOM1) and is implicated in severe fetal akinesia. KIF21A operates through regulated motor activity—autoinhibited in its resting state and activated via intramolecular interactions and recruitment by partners such as KANK1 to specific cortical complexes. It has no established therapeutics directly targeting it, but genetic alterations serve as critical biomarkers for syndromic diagnoses.
- Other names
- Kinesin-like protein KIF21AKIAA1708KIF2FLJ20052Renal carcinoma antigen NY-REN-62CFEOM1FEOM1FEOM3Akinesin-like protein KIF2renal carcinoma antigen NY-REN-62
02
Biological functions
Microtubule-based intracellular transportRegulation of microtubule polymerization and dynamicsNeuronal axon guidance and developmentCytoskeletal organizationCell cycle regulationInhibition of microtubule growth at the cell cortexCiliogenesis
03
Disease associations
Neurodevelopmental disorders (notably congenital fibrosis of extraocular muscles, CFEOM1)Fetal akinesia (neurogenic)Potential kidney disease (glomerular filtration barrier dysfunction/nephrotic syndrome in animal models)Other possible roles in organogenesis and disease from cytoskeletal misregulation
04
Safety considerations
Genetic knockout or severe loss of function leads to embryonic lethality and severe developmental disorders, indicating critical importance in neural and organ developmentGain-of-function mutations can result in specific neurological disorders (e.g., CFEOM1)Dysfunction can also result in kidney filtration barrier defects (nephrotic syndrome risk in animal models)
05
Biomarkers
Pathogenic KIF21A mutations (especially those linked to CFEOM1) are used as biomarkers for diagnosis of congenital fibrosis of extraocular muscles and related syndromes
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