Disease related genes, Human disease related genes
Intracellular
Cell type enhanced (Proximal tubular cells, Spermatocytes)
Low immune cell specificity
Low cell line specificity
Part of the mitochondrial complex I assembly/MCIA complex that comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9 and complement subunits such as COA1 and TMEM186 (PubMed:32320651). Interacts with ECSIT (PubMed:17344420). Interacts with ACAD9 (PubMed:20816094). At early stages of complex I assembly, it is found in intermediate subcomplexes that contain different subunits including NDUFB6, NDUFA6, NDUFA9, NDUFS3, NDUFS7, ND1, ND2 and ND3 (PubMed:17557076). Interacts with TMEM70 and TMEM242 (PubMed:33753518).
Chaperone
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For Research Use Only. Not For Clinical Use.