NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Definition:

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.

References:

[1]. Ann Saada, et al. C6ORF66 is an assembly factor of mitochondrial complex I. Am J Hum Genet. 2008 Jan;82(1):32-8. [Content Brief]

[2]. C M Karp, et al. HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion. Oncogene. 2007 Mar 15;26(12):1780-8. [Content Brief]

[3]. Cristina M Karp, et al. Identification of HRPAP20: a novel phosphoprotein that enhances growth and survival in hormone-responsive tumor cells. Cancer Res. 2004 Feb 1;64(3):1016-25. [Content Brief]

[4]. Fabian Baertling, et al. NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. Eur J Hum Genet. 2017 Nov;25(11):1273-1277. [Content Brief]

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