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SDHAF2 succinate dehydrogenase complex assembly factor 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_017841 Homo sapiens succinate dehydrogenase complex assembly factor 2 (SDHAF2), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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Gene Symbol SDHAF2
Entrez Gene ID 54949
Full Name succinate dehydrogenase complex assembly factor 2
Synonyms C11orf79, PGL2, SDH5
General protein information
Preferred Names
succinate dehydrogenase assembly factor 2, mitochondrial
Names
succinate dehydrogenase assembly factor 2, mitochondrial
hSDH5
SDH assembly factor 2
succinate dehydrogenase subunit 5, mitochondrial
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q12.2

Summary This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010].
Disorder

MIM: 613019

Paragangliomas 2, 601650 (3)

mRNA Protein Product Sequence Price Select
NM_017841, 300795354 NP_060311, 8923450 succinate dehydrogenase assembly factor 2, mitochondrial ORF Sequence $159.00
BIOCYC
HUMAN_PWY-5690TCA cycle II (eukaryotic)
Homo sapiens (human)SDHAF2NP_060311.1
Pan troglodytes (chimpanzee)PPP1R32NP_001238783.1
Macaca mulatta (Rhesus monkey)SDHAF2XP_001082359.2
Canis lupus familiaris (dog)SDHAF2XP_533273.2
Bos taurus (cattle)SDHAF2NP_001070513.1
Mus musculus (house mouse)Sdhaf2NP_079609.2
Rattus norvegicus (Norway rat)Sdhaf2NP_001008372.1
Gallus gallus (chicken)LOC426015NP_001264818.1
Danio rerio (zebrafish)sdhaf2NP_001076333.1
Drosophila melanogaster (fruit fly)CG14757NP_610363.1
Drosophila melanogaster (fruit fly)CG12895NP_001260868.1
Xenopus (Silurana) tropicalis (western clawed frog)sdhaf2XP_002937676.1
Process
IDNameEvidence
GO:0006121mitochondrial electron transport, succinate to ubiquinoneIMP
GO:0006470protein dephosphorylationIGI
GO:0010719negative regulation of epithelial to mesenchymal transitionIMP
GO:0018293protein-FAD linkageIMP
GO:0090090negative regulation of canonical Wnt signaling pathwayIGI
Component
IDNameEvidence
GO:0005739mitochondrionIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GeneCards SDHAF2
UniProt Q9NX18
MIM 613019
HGNC 26034
HPRD 07915

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SDHAF2 gene?

The SDHAF2 gene provides instructions for making a protein that interacts with the succinate dehydrogenase (SDH) enzyme. The SDHAF2 protein helps a molecule called FAD attach to the SDH enzyme. FAD is called a cofactor because it helps the enzyme carry out its function. The FAD cofactor is required for SDH enzyme activity.

The SDH enzyme plays a critical role in mitochondria, which are structures inside cells that convert the energy from food into a form that cells can use. Within mitochondria, the SDH enzyme links two important pathways in energy conversion: the citric acid cycle (or Krebs cycle) and oxidative phosphorylation. As part of the citric acid cycle, the SDH enzyme converts a compound called succinate to another compound called fumarate.

Succinate, the compound on which the SDH enzyme acts, is an oxygen sensor in the cell and can help turn on specific pathways that stimulate cells to grow in a low-oxygen environment (hypoxia). In particular, succinate stabilizes a protein called hypoxia-inducible factor (HIF) by preventing a reaction that would allow HIF to be broken down. HIF controls several important genes involved in cell division and the formation of new blood vessels in a hypoxic environment.

The SDHAF2 gene is a tumor suppressor, which means it prevents cells from growing and dividing in an uncontrolled way.

Interactant

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