ABCA12 peptide (ab127886)
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.
|Blocking||BL: Use at an assay dependent concentration.|
- ABC transporter A family member 12ABC transporter ABCA.12ABC12
- ABCA12ABCAC_HUMANAtABCA12ATH16ATP binding cassette 12ATP binding cassette sub family A (ABC1) member 12ATP binding cassette sub family A member 12ATP binding cassette transporter 12ATP-binding cassette 12ATP-binding cassette sub-family A member 12ATP-binding cassette transporter 12Ichthyosis congenita II lamellar ichthyosis BICR2BLI2Putative ABC2 homolog 16
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.
Contains 2 ABC transporter domains.
References for ABCA12 peptide (ab127886)
ab127886 has not yet been referenced specifically in any publications.