NDUFA8

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa

Identifiers

NDUFA8; CI-19KD; CI-PGIV; MGC793; PGIV

External IDs

OMIM: 603359 MGI: 1915625 HomoloGene: 40932 GeneCards: NDUFA8 Gene

Gene Ontology
Molecular function	• NADH dehydrogenase (ubiquinone) activity
Cellular component	• mitochondrion • mitochondrial inner membrane • mitochondrial respiratory chain complex I • mitochondrial respiratory chain complex I • mitochondrial intermembrane space • respiratory chain
Biological process	• mitochondrial electron transport, NADH to ubiquinone • transport • respiratory electron transport chain
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 9:
124.89 – 124.92 Mb

Chr 2:
35.89 – 35.9 Mb

PubMed search

[1]

[2]

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 is an enzyme that in humans is encoded by the NDUFA8 gene.^[1]^[2]

The protein encoded by this gene belongs to the complex I 19 kDA subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transferring electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.^[2]

References

^ Emahazion T, Beskow A, Gyllensten U, Brookes AJ (Nov 1998). "Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain". Cytogenet Cell Genet 82 (1-2): 115–9. doi:10.1159/000015082. PMID 9763677.
^ ^a ^b "Entrez Gene: NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4702.

Smeitink J, van den Heuvel L (1999). "Human mitochondrial complex I in health and disease.". Am. J. Hum. Genet. 64 (6): 1505–10. doi:10.1086/302432. PMC 1377894. PMID 10330338. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377894.
Sarto C, Marocchi A, Sanchez JC, et al. (1997). "Renal cell carcinoma and normal kidney protein expression.". Electrophoresis 18 (3-4): 599–604. doi:10.1002/elps.1150180343. PMID 9150947.
Smeitink J, Loeffen J, Smeets R, et al. (1998). "Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I.". Hum. Genet. 103 (2): 245–50. doi:10.1007/s004390050813. PMID 9760212.
Triepels R, van den Heuvel L, Loeffen J, et al. (1999). "The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients.". Hum. Genet. 103 (5): 557–63. doi:10.1007/s004390050869. PMID 9860297.
Loeffen JL, Triepels RH, van den Heuvel LP, et al. (1999). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.". Biochem. Biophys. Res. Commun. 253 (2): 415–22. doi:10.1006/bbrc.1998.9786. PMID 9878551.
Bénit P, Chretien D, Kadhom N, et al. (2001). "Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.". Am. J. Hum. Genet. 68 (6): 1344–52. doi:10.1086/320603. PMC 1226121. PMID 11349233. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1226121.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.

NDUFA8

References

Further reading