Q86UK0.3
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
256,960 Da
NCBI Official Full Name
ATP-binding cassette sub-family A member 12
NCBI Official Synonym Full Names
ATP-binding cassette, sub-family A (ABC1), member 12
NCBI Protein Information
ATP-binding cassette sub-family A member 12; ATP-binding cassette transporter 12
UniProt Protein Name
ATP-binding cassette sub-family A member 12
UniProt Synonym Protein Names
ATP-binding cassette transporter 12; ATP-binding cassette 12
UniProt Synonym Gene Names
UniProt Entry Name
ABCAC_HUMAN
NCBI Summary for ABCA12
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 Comments for ABCA12
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
Research Articles on ABCA12
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Pathways associated with ABCA12 elisa kit
Diseases associated with ABCA12 elisa kit
Organs/Tissues associated with ABCA12 elisa kit
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