The Goldberg-Shprintzen megacolon syndrome is caused by an autosomal recessive mutation in KIFBP, encoding kinesin family member (KIF)-binding protein (KBP). This protein is attributed to have a crucial role in nervous system development.
KIFBPKIFBPThe Goldberg-Shprintzen megacolon syndrome is caused by an autosomal recessive mutation in KIFBP, encoding kinesin family member (KIF)-binding protein (KBP). This protein is attributed to have a crucial role in nervous system development.