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TTC19 encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. Additionally we are shipping TTC19 Antibodies (8) and many more products for this protein.
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TTC19-deficient mitochondrial complex III deficiency displays substantial phenotypic variation. (Review)
This study showed that TTC19 deficient patients do show characteristic clinical and neuroimaging features, which may facilitate diagnosis of this yet rare disorder; normal MRC complex III activity does not exclude the diagnosis.
A TTC19 mutation in spinocerebellar ataxia (show USP14 Proteins) is identified in an Asian population.
The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts.
TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies.
This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene.
tetratricopeptide repeat domain 19
, TPR repeat protein 19
, tetratricopeptide repeat protein 19, mitochondrial