Gene: TTC21B

Alternate names for this Gene: ATD4|FAP60|FLA17|IFT139|IFT139B|JBTS11|NPHP12|Nbla10696|SRTD4|THM1

Gene Summary: This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4.

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.3

Description of this Gene: tetratricopeptide repeat domain 21B

Type of Gene: protein-coding

rs1553508246 in TTC21B gene and Jeune thoracic dystrophy PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

rs146320075 in TTC21B gene and NEPHRONOPHTHISIS 12 PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

rs1553508246 in TTC21B gene and Nephronophthisis PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

rs387907060 in TTC21B gene and SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.