NP_663729.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
32,772 Da
NCBI Official Full Name
ATP synthase mitochondrial F1 complex assembly factor 2
NCBI Official Synonym Full Names
ATP synthase mitochondrial F1 complex assembly factor 2
NCBI Protein Information
ATP synthase mitochondrial F1 complex assembly factor 2; ATP12 homolog
UniProt Protein Name
ATP synthase mitochondrial F1 complex assembly factor 2
UniProt Synonym Protein Names
ATP12 homolog
UniProt Synonym Gene Names
UniProt Entry Name
ATPF2_HUMAN
NCBI Summary for ATPAF2
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
UniProt Comments for ATPAF2
ATPAF2: May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). Defects in ATPAF2 are a cause of mitochondrial complex V deficiency nuclear type 1 (MC5DN1). A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. Belongs to the ATP12 family.
Protein type: Mitochondrial
Chromosomal Location of Human Ortholog: 17p11.2
Cellular Component: mitochondrion; nuclear speck
Molecular Function: protein binding
Biological Process: proton-transporting ATP synthase complex assembly
Disease: Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 1
Research Articles on ATPAF2
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Diseases associated with anti-ATPAF2 antibody
Organs/Tissues associated with anti-ATPAF2 antibody
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