ABCA12 blocking peptide

ABCA12 Immunizing Peptide

Cat. Num. AAA426242

• Gene Names: ABCA12; LI2; ICR2B; ARCI4A; ARCI4B
• Reactivity: Human, Dog
• Synonyms: ABCA12; ABCA12 Immunizing Peptide; ATP-binding cassette; sub-family A (ABC1); member 12; DKFZp434G232; FLJ41584; ICR2B; LI2; sub-family A; ABCA12 blocking peptide

• Reactivity: Human, Dog
• Form/Format: 100ug of dried peptide
• Sequence: C-KDQKSYETADTSSQ
• Sequence Length: 2595

• Preparation and Storage: Shipped at ambient temperature, store at -20 degree C

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

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