ABCA12 peptide (ab127886)
- Product nameABCA12 peptide
Our Abpromise guarantee covers the use of ab127886 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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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
- FunctionProbable transporter involved in lipid homeostasis.
- Tissue specificityMainly expressed in the stomach, placenta, testis and fetal brain.
- Involvement in diseaseDefects 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.
- Sequence similaritiesBelongs to the ABC transporter superfamily. ABCA family.
Contains 2 ABC transporter domains.
- DomainMultifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
- Cellular localizationMembrane.
References for ABCA12 peptide (ab127886)
ab127886 has not yet been referenced specifically in any publications.