TTC19 gene

tetratricopeptide repeat domain 19

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Mitochondrial protein required for formation of the mitochondrial complex III (PubMed:21278747). May also be required for the abcission step in cytokinesis, possibly regulating the ESCRT-III complex via its interaction with CHMP4B (PubMed:20208530). However, the involvement in cytokinesis requires additional experimental evidence.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Mitochondrial complex III deficiency, nuclear type 2

From UniProt:

Mitochondrial complex III deficiency, nuclear 2 (MC3DN2): A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. [MIM:615157]

Cytogenetic Location: 17p12, which is the short (p) arm of chromosome 17 at position 12

Molecular Location: base pairs 15,999,380 to 16,045,428 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p12, which is the short (p) arm of chromosome 17 at position 12
  • 2010204O13Rik
  • MC3DN2