Anti-KIAA0319抗体(ab118923)

Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.

Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.

Defects in KIAA0319 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:600202]; also known as specific reading disability type 2. Dyslexia is a relatively common, complex cognitive disorder that affects 5% to 10% of school-aged children. The disorder is characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities and in the absence of sensory or neurological disability. Note=A lower expression is associated with the risk haplotype.

Contains 1 MANSC domain.
Contains 5 PKD domains.

Expressed in the developing cerebral neocortex and glanglionic eminence in 57 days post-fertilization fetal brain.

N-glycosylated.
O-glycosylated.
Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus.

Cell membrane. Early endosome membrane. Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted.