For Research Use Only. Not for use in diagnostic procedures.

This assay has high sensitivity and excellent specificity for detection of ABCA12. No significant cross-reactivity or interference between ABCA12 and analogues was observed. NOTE: cross-reactivity detection between ABCA12 and all the analogues, therefore, cross reaction may still exist in some cases.

Store all reagents at 2-8 degree C.

We suggest pre-experimenting with neat (undiluted) samples, 1:2 or 1:4 dilutions. Please avoid diluting your samples more than 1:10 as it would exceed the dilution limit set for this kit. If the expected concentration of the target is beyond the detection range of the kit, please contact our technical support team

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.

Small volumes of ABCA12 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS7208897 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the ATP binding cassette sub family A member 12 (ABCA12) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing ABCA12. The ELISA analytical biochemical technique of the MBS7208897 kit is based on ABCA12 antibody-ABCA12 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect ABCA12 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, ABCA12. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

Intended Uses: This ABCA12 ELISA kit is a 1.5 hour solid-phase ELISA designed for the quantitative determination of Human ABCA12. This ELISA kit for research use only, not for therapeutic or diagnostic applications!

Signal Transduction

256,960 Da

ATP-binding cassette, sub-family A (ABC1), member 12

ATP-binding cassette sub-family A member 12; ATP-binding cassette transporter 12

ATP-binding cassette sub-family A member 12

ABC12; ATP-binding cassette 12??[Similar Products]

ABCAC_HUMAN

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

ABCA12: Probable transporter involved in lipid homeostasis. ABCA12 mutations are a cause of different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non- bullous congenital ichthyosiform erythroderma (NCIE). HI shows the most severe phenotype. NCIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious background erythroderma, respectively. Defects in ABCA12 are the cause of ichthyosis harlequin (HI). A very severe skin disorder in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Defects in ABCA12 are the cause of ichthyosis lamellar type 2 (LI2). A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. Defects in ABCA12 are a cause of erythroderma, ichthyosiform, congenital non-bullous (NCIE). A non- bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Belongs to the ABC transporter superfamily. ABCA family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transporter; Membrane protein, multi-pass; Membrane protein, integral; Transporter, ABC family; Mitochondrial

Chromosomal Location of Human Ortholog: 2q34

Cellular Component: cytoplasm; mitochondrial inner membrane; plasma membrane; integral to membrane; cytosol

Molecular Function: lipid transporter activity; lipid-transporting ATPase activity; protein binding; apolipoprotein A-I receptor binding; ATP binding; receptor binding

Biological Process: regulated secretory pathway; phospholipid efflux; metabolic process; keratinization; lipid homeostasis; cellular homeostasis; lipid transport; alveolus development; surfactant homeostasis; secretion by cell

Disease: Ichthyosis, Congenital, Autosomal Recessive 4b; Ichthyosis, Congenital, Autosomal Recessive 4a

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