GRIM19 ist ein Gen, das durch das Symbol NDUFA13 kodiert wird. Im Allgemeinen auch bezeichnet als: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13; Cell death regulatory protein GRIM-19; Complex I-B16.6; CI-B16.6; Gene associated with retinoic and interferon-induced mortality 19 protein; GRIM-19; NADH-ubiquinone oxidoreductase B16.6 subunit; NDUFA13. GRIM19 hat eine Masse von 16.7kDa, eine Aminosäurelänge von 144, und ist an folgenden Krankheiten beteiligt: Hurthle cell thyroid carcinoma; Mitochondrial complex I deficiency, nuclear type 28.
Wir bieten 6 antikörper gegen GRIM19, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined.
Gewebespezifität
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.
Rolle bei Krankheiten
Hurthle cell thyroid carcinoma: 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.
Mitochondrial complex I deficiency, nuclear type 28: 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.
Sequenzähnlichkeiten
Belongs to the complex I NDUFA13 subunit family.
Zellort
Mitochondrion inner membrane. Nucleus.
Localizes mainly in the mitochondrion (PubMed:12628925). May be translocated into the nucleus upon IFN/RA treatment.
