Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

KIF1-binding protein

The KIF1BP gene encodes a kinesin which is involved in transport of the mitochondria. Mutations cause autosomal recessive Goldberg-Shprintzen megacolon syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Goldberg-Shprintzen syndrome
KIF1BP

References:

1.

Nagase T et. al. (1999) Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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2.

Brooks AS et. al. (2005) Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

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3.

Alves MM et. al. (2010) KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.

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4.

Drévillon L et. al. (2013) KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

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5.

Valence S et. al. (2013) Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

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Update: Sept. 26, 2018