Description
KIFBP (Kinesin Family Binding Protein, also known as KIAA1279 and KIF1BP) is a Protein Coding gene. This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratricopeptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating the transport of the mitochondria. Homozygous nonsense mutations in KIAA1279 at 1q22.1, encoding a protein with two tetratricopeptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of KIAA1279 in both enteric and central nervous system development. KIAA1279 is widely expressed in the brain, testis, and other tissues. Diseases associated with KIFBP include Goldberg-Shprintzen Syndrome and Shprintzen-Goldberg Craniosynostosis Syndrome