TTC19

Chr 17AR

tetratricopeptide repeat domain 19

Also known as: 2010204O13Rik, MC3DN2

NCBI Gene: 54902 ENSG00000011295 UniProt: Q6DKK2 OMIM: 613814

The protein is embedded in the inner mitochondrial membrane and is involved in the formation of mitochondrial respiratory chain complex III. Mutations cause mitochondrial complex III deficiency, nuclear type 2, inherited in an autosomal recessive pattern. The pathogenic mechanism is predicted to be gain of function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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. [provided by RefSeq, Sep 2012]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex III deficiency, nuclear type 2MIM #615157

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.12

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TTC19