Tetratricopeptide Repeat Domain Protein 22 (TTC22)

The tetratricopeptide repeat (TPR) motif is a degenerate, 34 amino acid sequence found in many proteins, which mediates protein-protein interactions in various pathways. TTC22 is a 569 amino acid protein containing seven TPR repeats and exists as two alternatively spliced isoforms. The gene encoding TTC22 maps to human chromsome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.