NDUFAF6

NADH:ubiquinone oxidoreductase complex assembly factor 6 is a protein that in humans is encoded by the NDUFAF6 gene. The protein is involved in the assembly of complex I in the mitochondrial electron transport chain.[4] Mutations in the NDUFAF6 gene have been shown to cause Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi Syndrome.[5]

NDUFAF6
Identifiers
AliasesNDUFAF6, C8orf38, NADH:ubiquinone oxidoreductase complex assembly factor 6
External IDsOMIM: 612392 MGI: 1924197 HomoloGene: 43831 GeneCards: NDUFAF6
Orthologs
SpeciesHumanMouse
Entrez

137682

76947

Ensembl

ENSG00000156170

ENSMUSG00000050323

UniProt

Q330K2

A2AIL4

RefSeq (mRNA)

NM_152416
NM_001330582

NM_001085493

RefSeq (protein)

NP_001078962

Location (UCSC)n/aChr 4: 11.05 – 11.08 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Structure

The NDUFAF6 gene is located on the q arm of chromosome 8 in position 22.1 and spans 222,728 base pairs.[4] The gene produces a 38.2 kDa protein composed of 333 amino acids.[6][7] The protein contains a predicted phytoene synthase domain.[4]

Function

The NDUFAF6 gene encodes a protein that localizes to mitochondria. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis.[4]

Clinical Significance

Mutations in the NDUFAF6 gene are associated with complex I enzymatic deficiency[4] and lead to Leigh syndrome,[8] which is characterized by lesions in the central nervous system and rapid deterioration of cognitive and motor functions. In Acadians, a non-coding mutation in NDUFAF6 has been shown to cause Acadian variant Fanconi Syndrome, symptoms of which include pulmonary interstitial fibrosis and proximal tubular dysfunction accompanied by slowly progressive kidney disease. Inheritance of mutations in the NDUFAF6 gene is autosomal recessive.[5]

Interactions

The protein encoded by NDUFAF6 interacts with RHOXF2, OTX1, GUCD1,[9] and GALNT6[10] proteins.

References

  1. GRCm38: Ensembl release 89: ENSMUSG00000050323 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Entrez Gene: NADH:ubiquinone oxidoreductase complex assembly factor 6". Retrieved 2018-07-25.
  5. Bianciardi, Laura; Imperatore, Valentina; Fernandez-Vizarra, Erika; Lopomo, Angela; Falabella, Micol; Furini, Simone; Galluzzi, Paolo; Grosso, Salvatore; Zeviani, Massimo (2016). "Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene". Molecular Genetics and Metabolism. 119 (3): 214–222. doi:10.1016/j.ymgme.2016.09.001. ISSN 1096-7192. PMID 27623250.
  6. Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  7. "NDUFAF6 - NADH dehydrogenase (ubiquinone) complex I, assembly factor 6". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
  8. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {612392}: {04/29/2015}: . World Wide Web URL: https://omim.org/
  9. IntAct. "id:Q330K2*". www.ebi.ac.uk. Retrieved 2018-07-26.
  10. Lab, Mike Tyers. "NDUFAF6 Result Summary | BioGRID". thebiogrid.org. Retrieved 2018-07-26.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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