KIFBP

Chr 10

kinesin family binding protein

Also known as: KBP, KIAA1279, KIF1BP, TTC20

NCBI Gene: 26128 ENSG00000198954 UniProt: Q96EK5

This gene encodes a kinesin family binding protein that activates KIF1B microtubule motor activity and is required for axonal microtubule organization, axonal outgrowth, and maintenance during nervous system development. Mutations cause Goldberg-Shprintzen megacolon syndrome, which involves both gastrointestinal and neurological systems. The condition follows autosomal recessive inheritance.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGoldberg-Shprintzen syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Goldberg-Shprintzen syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.51

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — KIFBP