Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. Regulates mitochondrial transport by modulating KIF1B motor activity.
Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver and brain. Not expressed in blood leukocytes.
Involvement in disease
Defects in KIAA1279 are the cause of Goldberg-Shprintzen megacolon syndrome (GOSHS) [MIM:609460]. GOSHS is characterized by microcephaly, mental retardation and facial dysmorphism, as well as phenotypes related to Hirschsprung disease syndrome.