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 …

2024年12月24日 · ABCA12 (ATP Binding Cassette Subfamily A Member 12) is a Protein Coding gene. Diseases associated with ABCA12 include Ichthyosis, Congenital, Autosomal Recessive 4B and Ichthyosis, Congenital, Autosomal Recessive 4A .

The ABCA12 gene provides instructions for making a protein known as an ATP-binding cassette (ABC) transporter. ABC transporter proteins carry many types of molecules across cell membranes.

2022年4月21日 · HGNC Approved Gene Symbol: ABCA12. Cytogenetic location: 2q35 Genomic coordinates (GRCh38) : 2:214,931,542-215,138,626 (from NCBI) Members of the ATP-binding cassette (ABC) transporter superfamily carry out energy-dependent transport of …

2023年12月1日 · Lipidomic analyses reveal that ABCA12 maintains cancer stemness and chemoresistance by reducing intracellular ceramide abundance, identifying a CSC-associated function of ABCA subfamily transporter. Ceramide suppresses cancer stemness by inhibiting the YAP-SOX9 signaling pathway in CSCs.

ABCA12 is a keratinocyte transmembrane lipid transporter protein associated with the transport of lipids in lamellar granules to the apical surface of granular layer keratinocytes. Extracellular lipids, including ceramide, are thought to be essential for skin barrier function.

2025年2月8日 · ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. ABCA12 is reduced in harlequin ichrhyosis and thus is a key molecule in regulating keratinocyte differentiation and transporting specific proteases associated with desquamation. Observational study of gene-disease association.

ABCA12 is a keratinocyte transmembrane lipid transporter protein associated with the transport of lipids via lamellar granules. ABCA12 is considered to transport lipids including ceramides to form extracellular lipid layers in the stratum corneum of the epidermis, which is …

Many variants (also known as mutations) in the ABCA12 gene have been identified in people with harlequin ichthyosis. This skin condition is characterized by hard, thick scales that are present at birth; excessive dehydration; and increased risk of infections. Most ABCA12 gene variants result in the production of an abnormally short protein that

ABCA12 (ATP binding cassette transporter, family 12) is a cellular membrane transporter that facilitates the delivery of glucosylceramides to epidermal lamellar bodies in keratinocytes, a process that is critical for permeability barrier formation.