The NDUFS3 gene encodes a protein subunit consisting of 263 amino acids. This protein is synthesized in the cytoplasm and then transported to the mitochondria via a signal peptide. Two mutations that occur in its highly conserved C-terminal region, T145I and R199W, are causally linked to Leigh syndrome and optic atrophy. Nonetheless, despite ...

2024年12月25日 · NDUFS3 (NADH:Ubiquinone Oxidoreductase Core Subunit S3) is a Protein Coding gene. Diseases associated with NDUFS3 include Mitochondrial Complex I Deficiency, Nuclear Type 8 and Isolated Complex I Deficiency. Among its related pathways are Signaling by Rho GTPases and Complex I biogenesis.

2021年4月15日 · In most eukaryotes, homologs of NuoB-NuoG and NuoI are nuclear genes; NDUFS3 is the homolog of NuoC. Comparative studies showed that the number of nuclear-encoded complex I subunits increases with the evolutionary complexity of the organism.

Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (PubMed: 12611891). Interacts with NDUFAF3 (PubMed: 19463981). Interacts with RAB5IF (PubMed: 31536960). Found in subcomplexes containing subunits NDUFS2, MT-ND1 and NDUFA13 (PubMed: 17209039, PubMed: 18826940). Search…

NDUFS3 is a prognostic marker in Kidney renal clear cell carcinoma, Liver hepatocellular carcinoma, Lung adenocarcinoma

NDUFS3 - NADH:ubiquinone oxidoreductase core subunit S3 Synonym(s): CI-30, NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial, complex I 30kDa subunit Previous symbol(s) and name(s): NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase), NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa …

2024年12月17日 · View mouse Ndufs3 Chr2:90724971-90735065 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression

NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc: 7710] CI-30. Chromosome 11: 47,586,888-47,606,114 forward strand. GRCh37:CM000673.1. This gene has 13 transcripts (splice variants) and is associated with 2 phenotypes. Show transcript table.

Orthologous to human NDUFS3 (NADH:ubiquinone oxidoreductase core subunit S3); PARTICIPATES IN doxorubicin pharmacokinetics pathway; Alzheimer's disease pathway; Huntington's disease pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-sulfonyldiphenol; 6-propyl-2-thiouracil. more info ... less info ...

NDUFS3 - Explore an overview of NDUFS3, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data.