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.

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.

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.

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 …

The gene ABCA12, which encodes the ABC transporter protein, also maps within the minimal homozygous region on chromosome 2q35. Missense mutations in this gene have recently been shown to underlie the less severe ichthyotic disorders LI and NBCIE (Lefevre et al. 2003 ).

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 …

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.

Here, we explore the role of the putative lipid transporter ABCA12 in regulating insulin secretion from β‐cells. Mice with β‐cell‐specific deletion of Abca12 display impaired glucose‐stimulated insulin secretion and eventual islet inflammation and β‐cell death.