Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
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.

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

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4.

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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5.

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

external link
6.

Orphanet article

Orphanet ID 122834 external link
7.

NCBI article

NCBI 26128 external link
8.

OMIM.ORG article

Omim 609367 external link
Update: Aug. 14, 2020
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