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

Gene: TTC21B-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs140511594 in TTC21B;TTC21B-AS1 gene and Hepatic Fibrosis, Congenital PMID 24876116 2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

PMID 26940125 2017 Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

rs140511594 in TTC21B;TTC21B-AS1 gene and Jeune thoracic dystrophy PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

PMID 24876116 2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

rs140511594 in TTC21B;TTC21B-AS1 gene and NEPHRONOPHTHISIS 12 PMID 24876116 2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

PMID 26940125 2017 Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

rs140511594 in TTC21B;TTC21B-AS1 gene and Nephronophthisis PMID 24876116 2014 Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation.

PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

rs140511594 in TTC21B;TTC21B-AS1 gene and Renal cyst PMID 24876116 2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

PMID 26940125 2017 Contribution of the TTC21B gene to glomerular and cystic kidney diseases.