Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tetratricopeptide repeat protein 21B

The TTC21 gene encodes a ciliary protein that is responsible for retrograde intraflagellar transport. Mutations cause various recessive ciliopathies such as Joubert syndrome 11, and Nephronophthisis 12.

Genetests:

Research 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:

Joubert syndrome 11
TTC21B
Nephronophthisis 12
TTC21B
Short-rib thoracic dysplasia with or without polydactyly 04
TTC21B

References:

1.

Davis EE et al. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

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2.

Tran PV et al. (2008) THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.

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3.

NCBI article

NCBI 79809 [^]
4.

OMIM.ORG article

Omim 612014 [^]
5.

Orphanet article

Orphanet ID 260351 [^]
Update: April 29, 2019