Goat ABCA12 Polyclonal Antibody | anti-ABCA12 antibody

Goat anti-ABCA12 Antibody

Cat. Num. AAA422139

• Gene Names: ABCA12; LI2; ICR2B; ARCI4A; ARCI4B
• Reactivity: Expected from sequence similarity: Human, Dog
• Applications: ELISA
• Purity: Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
• Synonyms: ABCA12; Polyclonal Antibody; Goat anti-ABCA12 Antibody; ATP-binding cassette; sub-family A (ABC1); member 12; DKFZp434G232; FLJ41584; ICR2B; LI2; sub-family A; ABCA12 antibody; member 12 antibody; DKFZp434G232 antibody; FLJ41584 antibody; ICR2B antibody; LI2 antibody; anti-ABCA12 antibody

• Host: Goat
• Reactivity: Expected from sequence similarity: Human, Dog
• Clonality: Polyclonal
• Purity/Purification: Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
• Form/Format: Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.
• Concentration: 100ug specific antibody in 200ul (varies by lot)
• Sequence: KDQKSYETADTSSQ
• Sequence Length: 2595

• Applicable Applications for anti-ABCA12 antibody: Peptide ELISA (EIA)
• Application Notes: Peptide ELISA: Antibody detection limit dilution 1: 1000.; Western Blot: Preliminary experiments gave an approx 35kDa band in Human Placenta, Skin and Testis lysates after 1ug/ml antibody staining. Please note that currently we cannot find an explanation in the literature for the band we observe given the calculated size of 193kDa according to NP_775099.2 and of 257kDa according to NP_056472.2. The 35kDa band was successfully blocked by incubation with the immunizing peptide.
• Immunogen: Peptide with sequence C-KDQKSYETADTSSQ, from the internal regon (near C terminus) of the protein sequence according to NP_775099.2; NP_056472.2.
• Epitope: Internal region (near C Terminus)
• Note: This antibody is expected to recognize both reported isoforms (NP_775099.2; NP_056472.2).
• Preparation and Storage: Aliquot and store at -20 degree C. Minimize freezing and thawing.

NCBI and Uniprot Product Information

• NCBI GI #: 30795238
• NCBI GeneID: 26154
• NCBI Accession #: NP_775099.2; NP_056472.2
• NCBI GenBank Nucleotide #: NM_173076.2
• Molecular Weight: 256,960 Da
• NCBI Official Full Name: ATP-binding cassette sub-family A member 12 isoform a
• NCBI Official Synonym Full Names: ATP binding cassette subfamily A member 12
• NCBI Official Symbol: ABCA12
• NCBI Official Synonym Symbols: LI2; ICR2B; ARCI4A; ARCI4B
• NCBI Protein Information: ATP-binding cassette sub-family A member 12
• UniProt Protein Name: ATP-binding cassette sub-family A member 12
• Protein Family: ABC transporter A family
• UniProt Gene Name: ABCA12
• UniProt Synonym Gene Names: ABC12; ATP-binding cassette 12
• UniProt Entry Name: ABCAC_HUMAN

NCBI Description

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]

Uniprot Description

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

Chromosomal Location of Human Ortholog: 2q34

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

Molecular Function: apolipoprotein A-I receptor binding; ATP binding; ATPase activity, coupled to transmembrane movement of substances; lipid transporter activity; lipid-transporting ATPase activity; protein binding; receptor binding

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

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