Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Intraflagellar transport protein 172 homolog

The IFT172 gene encodes a ciliary protein that is responsible for intraflagellar transport. Mutations cause various recessive ciliopathies such as Short-rib thoracic dysplasia with or without polydactyly 10, and Nephronophthisis 17.

Genetests:

Research 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

Related Diseases:

Nephronophthisis 17
IFT172
Short-rib thoracic dysplasia with or without polydactyly 10
IFT172

References:

1.

Hirosawa M et al. (1999) Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.

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2.

Halbritter J et al. (2013) Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

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3.

Howard PW et al. (2000) Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors.

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4.

Huangfu D et al. (2003) Hedgehog signalling in the mouse requires intraflagellar transport proteins.

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5.

Bujakowska KM et al. (2015) Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

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6.

Orphanet article

Orphanet ID 371219 [^]
7.

NCBI article

NCBI 26160 [^]
8.

OMIM.ORG article

Omim 607386 [^]
Update: April 29, 2019