TTC25

This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]

Description

Tetratricopeptide repeat domain 25

Tissue specificity

Group enriched (fallopian tube, testis)

Subcell location

Vesicles, Centrosome

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

17 (41930617 - 41966503)

Ensembl ID

ENSG00000204815  (ver. 103.38)

Orthologs

Mouse Odad4: ENSMUSG00000006784

UniProt

Q96NG3

neXtProt

NX_Q96NG3

Human splice variants
Mouse splice variants

Protein structure