NDUFA13
Developmental stage
Expressed in numerous fetal tissues.
Function
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371). Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes (PubMed:15753091).
Involvement in disease
Hurthle cell thyroid carcinoma
HCTC
A rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Mitochondrial complex I deficiency, nuclear type 28
MC1DN28
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN28 transmission pattern is consistent with autosomal recessive inheritance.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the complex I NDUFA13 subunit family.
Tissue Specificity
Widely expressed, with highest expression in heart, skeletal muscle, liver, kidney and placenta. In intestinal mucosa, down-regulated in areas involved in Crohn disease and ulcerative colitis.
Cellular localization
- Mitochondrion inner membrane
- Single-pass membrane protein
- Matrix side
- Nucleus
- Localizes mainly in the mitochondrion (PubMed:12628925). May be translocated into the nucleus upon IFN/RA treatment.
Alternative names
GRIM19, CDA016, CGI-39, NDUFA13, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13, Cell death regulatory protein GRIM-19, Complex I-B16.6, Gene associated with retinoic and interferon-induced mortality 19 protein, NADH-ubiquinone oxidoreductase B16.6 subunit, CI-B16.6, GRIM-19, Gene associated with retinoic and IFN-induced mortality 19 protein