Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Kinesin-like protein KIF7

The KIF7 gene encodes a cilia-associated kinesin. Mutations cause autosomal recessive Joubert syndrome 12 and various other skeletal syndromes.

Genetests:

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

Related Diseases:

Al-Gazali-Bakalinova syndrome
KIF7
Hydrolethalus 2
KIF7
Acrocallosal syndrome
KIF7
Joubert syndrome 12
KIF7

References:

1.

Putoux A et. al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

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2.

Dafinger C et. al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

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3.

Lee JE et. al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

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4.

al-Gazali LI et. al. (1998) Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

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5.

Katoh Y et. al. (2004) Characterization of KIF7 gene in silico.

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6.

Liem KF et. al. (2009) Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling.

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7.

Ali BR et. al. (2012) A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

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Update: Sept. 26, 2018