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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …