The gene KIFBPis located on 10q22.1 and encodes for a kinesin family member (KIF)-binding protein, which plays a role in organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development by remodeling the kinesin motor to prevent microtubule binding, and likely serving as a negative regulator on anterograde intracellular transport.
Recessive variants in KIFBPcause a multisystem disorder characterized by impaired intellectual development, learning difficulties, microcephaly, characteristic dysmorphic features, neuropathy and often Hirschsprung's disease and/or gyral abnormalities with additional multisystem abnormalities due to a loss of function with either reduced protein expression in missense variants or absent protein in truncating variants.
Diagnostic testing is usually performed via multi-gene panel and exome / genome sequencing, or in rare instances single-gene testing.
KIFBP