The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Blocking - Blocking peptide for Anti-ABCA12 antibody (ab98976)
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Preparation and Storage
Stability and Storage
Shipped at 4°C. Store at -20ºC.
ABC transporter A family member 12
ABC transporter ABCA.12
ATP binding cassette 12
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 12
ATP-binding cassette sub-family A member 12
ATP-binding cassette transporter 12
Ichthyosis congenita II lamellar ichthyosis B
Putative ABC2 homolog 16
Probable transporter involved in lipid homeostasis.
Mainly expressed in the stomach, placenta, testis and fetal brain.
Involvement in disease
Defects in ABCA12 are the cause of ichthyosis harlequin (HI) [MIM:242500]; also known as harlequin fetus. HI is 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) [MIM:601277]; also known as ichthyosis congenita IIB (ICR2B). LI is 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.
Belongs to the ABC transporter superfamily. ABCA family. Contains 2 ABC transporter domains.
Multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.