Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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
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:

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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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.

external link
6.

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

external link
7.

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

external link
8.

NCBI article

NCBI 374654 external link
9.

OMIM.ORG article

Omim 611254 external link
10.

Orphanet article

Orphanet ID 268061 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits