DEFINITION
ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.
ABCA12 belongs to a group of genes called the
ATP-binding cassette family, which makes proteins that transport molecules across cell membranes. The
ABCA12 gene is active in some types of skin cells and in several other tissues, such as testis, placenta, lung, stomach, and fetal brain and liver. The
ABCA12 protein appears to be essential for normal development of the skin, which provides a barrier between the body and its surrounding environment. Although the exact function of the protein is unknown, researchers suggest that it probably plays an important role in transporting lipids (fats) in cells that make up the outermost layer of skin (the epidermis).
The ABCA12 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35, from base pair 215,621,772 to base pair 215,828,656.
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THE GENE
CHEMICAL STRUCTURE AND IMAGES
When relevant for the function
- Primary structure
- Secondary structure
- Tertiary structure
- Quaternary structure
Protein Aminoacids Percentage
The Protein Aminoacids Percentage gives useful information on the local environment and the metabolic status of the cell (starvation, lack of essential AA, hypoxia)
Protein Aminoacids Percentage (Width 700 px)
SYNTHESIS AND TURNOVER
mRNA synthesis
protein synthesis
post-translational modifications
degradation
CELLULAR FUNCTIONS
cellular localization,
Localization and structure of ABCA12 protein and the sites of HI mutations. (A) ABCA12 protein (green) was localized in the cytoplasm of the upper epidermal keratinocytes (arrows) in healthy skin. (B) No ABCA12 immunolabeling was seen in the epidermis of patient 4. © Weak ABCA12 staining (arrows) was observed in the epidermis of patient 1. Asterisks indicate nonspecific staining in the stratum corneum. Red, nuclear counterstain. Scale bar: 10 μm. (D–F) By immunoelectron microscopy, ABCA12 protein (5 nm gold particles) was restricted to LGs (arrows) in the upper epidermal cell (D). Lamellar structures were apparent in some ABCA12-positive LGs (E). ABCA12-positive LGs (arrows) were observed close to the keratinocyte-cell membrane (white circles) and they fused with it to secrete their contents into the intercellular space (F). Scale bars: 0.2 μm. (G) Model of ABCA12 function in the skin. ABCA12 transports lipid into the LG, and ABCA12-positive LGs fuse with the cell membrane to secrete lipid into extracellular space to form the intercellular lipid layer. (H) Structure of ABCA12 protein and the 5 mutation sites (red arrows) in HI families. Dark-blue area, cell membrane; bottom of dark-blue area, cytoplasmic surface.
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer,2005
biological function
Skin lipids
Ceramide
- Cell signaling and Ligand transport
- Structural proteins
REGULATION
DIAGNOSTIC USE
