Product Description

ATPAF2 Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES1731-50, ES1731-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

Background: ATP synthase mitochondrial F1 complex assembly factor 2(ATPAF2) Homo sapiens 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],

Reactivity: Human, Mouse

Host: Rabbit

Applications: WB, ELISA

Alternate Names: ATPAF2, ATP12, LP3663, ATP synthase mitochondrial F1 complex assembly factor 2, ATP12 homolog

Clonality: Polyclonal

Immunogen: The antiserum was produced against synthesized peptide derived from human ATPAF2. AA range:21-70

Isotype: IgG

Target: ATPAF2

Specificity: ATPAF2 Polyclonal Antibody detects endogenous levels of ATPAF2 protein.

Dilution: Western Blot: 1/500 - 1/2000. ELISA: 1/40000. Not yet tested in other applications.

Purification: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration: 1 mg/ml,

Formlation: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Expression: Widely expressed,

Observed Band (KD): 35kD

Function: Disease: 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)
Function: May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase)
Similarity: Belongs to the ATP12 family
Subunit: Interacts with ATP5A1
Tissue Specificity: Widely expr

Subcellular Location: Mitochondrion

Storage and Stability: -20°C/1 year

Gene Name: ATPAF2

Protein Name: ATP synthase mitochondrial F1 complex assembly factor 2

Mouse Gene ID: 246782

Mouse SwissProt Number: Q91YY4

Research Use Only