NDUFAF3
Sign in to saveAlso known as 2P1, C3orf60, E3-3, NADH:ubiquinone oxidoreductase complex assembly factor 3, MC1DN18
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3, also known as 2P1, E3-3, or C3orf60, is a protein that in humans is encoded by the NDUFAF3 gene. NDUFAF3 is a mitochondrial assembly protein involved in the assembly of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in this gene have been associated with severe complex I deficiency and Leigh syndrome.
Gene data
NDUFAF3- Name
- NADH:ubiquinone oxidoreductase complex assembly factor 3
- Type
- protein-coding
- Position
- 49,020,459–49,027,593 (+)
- Aliases
- 2P1, C3orf60, E3-3, MC1DN18
- Ensembl
- ENSG00000178057
- RefSeq RNA
- NM_199069.2, NM_199070.2, NM_199073.2, NM_199074.2, NM_199417.1
- RefSeq protein
- NP_951032.1, NP_951033.1, NP_951047.1, NP_951056.1
This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
NADH:ubiquinone oxidoreductase complex assembly factor 3
- Symbol
- NDUFAF3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:49,020,459-49,027,593
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~3 min read
Encyclopedic overview
7 sectionsContents
- Structure
- Function
- Clinical Significance
- Interactions
- References
- Further reading
- External links
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3, also known as 2P1, E3-3, or C3orf60, is a protein that in humans is encoded by the NDUFAF3 gene. NDUFAF3 is a mitochondrial assembly protein involved in the assembly of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in this gene have been associated with severe complex I deficiency and Leigh syndrome.
== Structure == NDUFAF3 is located on the p arm of chromosome 3 in position 21.31 and has 7 exons. The NDUFAF3 gene produces a 20.4 kDa protein composed of 184 amino acids. NDUFAF3 encodes two isoforms which have a common DUF498 domain. Predictions indicate that isoform A contains an additional 35 amino acid N-terminal sequence and is thus longer than isoform B. The extra sequence may be involved in mitochondrial targeting, supporting NDUFAF3's function in mitochondrial assembly.
Excerpted from Wikipedia’s “NDUFAF3” article, available under the CC BY-SA 4.0 licence.