KIF21A Antibody – Rabbit Polyclonal

This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.

KIF21A: Microtubule-binding motor protein probably involved in neuronal axonal transport. In vitro, has a plus-end directed motor activity. Defects in KIF21A are a cause of congenital fibrosis of extraocular muscles type 1 (CFEOM1). CFEOM encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. CFEOM is characterized clinically by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. CFEOM1 individuals show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. Belongs to the kinesin-like protein family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Microtubule-binding; Motor

Chromosomal Location of Human Ortholog: 12q12

Cellular Component: microtubule; kinesin complex; cytoplasm

Molecular Function: protein binding; microtubule binding; ATPase activity; microtubule motor activity; ATP binding

Biological Process: metabolic process; microtubule-based movement

Disease: Fibrosis Of Extraocular Muscles, Congenital, 1