Rabbit anti-Human ABCA12 Polyclonal Antibody

Uniprot Id

Q86UK0

Target Species

Human

Target Name

ABCA12

Target Full Name

Glucosylceramide transporter ABCA12

Target Function

Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the trans-Golgi network and LGs and released to the apical surface of the granular keratinocytes to form lipid lamellae in the stratum corneum of the epidermis, which is essential for skin barrier function. In the meantime, participates in the transport of the lamellar granules-associated proteolytic enzymes, in turn regulates desquamation and keratinocyte differentiation. Furthermore, is essential for the regulation of cellular cholesterol homeostasis by regulating ABCA1-dependent cholesterol efflux from macrophages through interaction with NR1H2 and ABCA1. Plays pleiotropic roles in regulating glucose stimulated insulin secretion from beta cells, regulating the morphology and fusion of insulin granules, lipid raft abundance and the actin cytoskeleton. Also involved in lung surfactant biogenesis.

Target Involvement

Ichthyosis, congenital, autosomal recessive 4A (ARCI4A); Ichthyosis, congenital, autosomal recessive 4B (ARCI4B)

Target Subcellular Location

Cytoplasmic vesicle, secretory vesicle membrane; Multi-pass membrane protein. Golgi apparatus membrane.

Target Protein Families

ABC transporter superfamily, ABCA family

Target Tissue Specificity

Mainly expressed in the stomach, placenta, testis and fetal brain. Expressed in the upper epidermal layers, mainly the granular layers, of skin. Expressed throughout the normal interfollicular epidermis with prominent expression in the stratum granulosum.

Target Synonyms

ABC transporter A family member 12; ABC transporter ABCA.12; ABC12; ABCA12; ABCAC_HUMAN; AtABCA12; ATH16; 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; ICR2B; LI2; Putative ABC2 homolog 16

Target Background

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.