Rabbit anti-Human ABCA12 Polyclonal Antibody | anti-ABCA12 antibody

ABCA12 Antibody

Cat. Num. AAA9419182

• Gene Names: ABCA12; LI2; ICR2B; ARCI4A; ARCI4B
• Reactivity: Human
• Applications: Western Blot
• Synonyms: ABCA12; Polyclonal Antibody; ABCA12 Antibody; ABC12; DKFZP434G232; ICR2B; LI2; ATP-binding cassette 12; anti-ABCA12 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Specificity: ABCA12 Antibody detects endogenous levels of total ABCA12
• Form/Format: Rabbit IgG in phosphate buffered saline, pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
• Concentration: 1.0mg/mL (varies by lot)
• Sequence Length: 2277

• Applicable Applications for anti-ABCA12 antibody: Western Blot (WB)
• Application Notes: Western Blot: 1:1000-3000
• Immunogen: A synthesized peptide derived from human ABCA12
• Immunogen Type: Peptide
• Preparation and Storage: Store at -20 degree C

Western Blot (WB)

(Western blot analysis ABCA12 using LOVO whole cell lysates)

Product Categories/Family for anti-ABCA12 antibody

Total protein Ab

NCBI and Uniprot Product Information

• NCBI GI #: 27881501
• NCBI GeneID: 26154
• NCBI Accession #: NP_056472.2
• NCBI GenBank Nucleotide #: NM_015657.3
• UniProt Accession #: Q86UK0; Q53QE2; Q53S55; Q8IZW6; Q96JT3; Q9Y4M5
• Molecular Weight: 256,960 Da
• NCBI Official Full Name: ATP-binding cassette sub-family A member 12 isoform b
• 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: Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter; Transporter, ABC family

Chromosomal Location of Human Ortholog: 2q34

Cellular Component: cytoplasm; plasma membrane

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

Biological Process: lipid transport; phospholipid efflux; regulated secretory pathway; secretion by cell; transmembrane transport

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