Anti-ATPAF2 (aa 159-289) polyclonal antibody (DPABH-12101) This product is for research use only and is not intended for diagnostic use. PRODUCT INFORMATION Antigen Description ATPAF2 belongs to the ATP12 family. It may play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). Defects in ATPAF2 are the cause of complex V mitochondrial respiratory chain ATPAF2 subunit deficiency (ATPAF2 deficiency) [MIM:604273]; also called ATP synthase deficiency or ATPase deficiency. ATPAF2 deficiency seems to be an early presenting disease in which lactic acidosis, dysmorphic features, and methyl glutaconic aciduria can be major clues in the diagnosis. Dysmorphic features include a large mouth, prominent nasal bridge, micrognathia, rocker-bottom feet and flexion contractures of the limbs associated with camptodactyly. Patients are hypertonic and have an enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebro spinal fluid (CSF). Immunogen Recombinant fragment corresponding to Human ATPAF2 aa 159-289 (C terminal). (BC004114).Sequence: DPIIEWAEKRYGVEISSSTSIMGPSIPAKTREVLVSHLASYNTWALQGIE FVAAQLKSMVLTLGLIDLRLTVEQAVLLSRLEEEYQIQKWGNIEWAHDYE LQELRARTAAGTLFIHLCSESTTVKHKLLKE Database link: Q8N5M1 Isotype IgG Source/Host Rabbit Species Reactivity Human Purification Immunogen affinity purified Conjugate Unconjugated Applications WB, IHC-P Format Liquid Size 100 μg Buffer pH: 7.20; Constituents: 98% PBS, 1% BSA Preservative 0.02% Sodium Azide Storage Shipped at 4°C. Store at 4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle. 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 1 © Creative Diagnostics All Rights Reserved GENE INFORMATION Gene Name ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 [ Homo sapiens ] Official Symbol ATPAF2 Synonyms ATPAF2; ATP synthase mitochondrial F1 complex assembly factor 2; ATP12; Atp12p; LP3663; MGC29736; ATP12 homolog; ATP12p; MC5DN1; Entrez Gene ID 91647 Protein Refseq NP_663729 UniProt ID Q8N5M1 Chromosome Location 17p11.2 Function protein binding; 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 2 © Creative Diagnostics All Rights Reserved.