ABCA12 gene - Histology

What is the ABCA12 Gene?

The ABCA12 gene belongs to the ATP-binding cassette (ABC) transporter family, which plays a crucial role in the transport of various molecules across extra- and intra-cellular membranes. Specifically, ABCA12 is implicated in the lipid transport essential for the formation of the skin barrier.

Where is ABCA12 Expressed?

The ABCA12 gene is predominantly expressed in the epidermis, particularly within the granular layer of the skin. This localization underscores its role in epidermal differentiation and keratinization processes.

What is the Function of ABCA12?

ABCA12 is primarily responsible for the transport of lipids to lamellar granules in keratinocytes. These granules are critical for the formation of the extracellular lipid barrier in the stratum corneum, which is essential for maintaining skin hydration and protecting against environmental insults.

What Happens When ABCA12 is Mutated?

Mutations in the ABCA12 gene can lead to severe skin disorders such as Harlequin Ichthyosis and other types of congenital ichthyosis. These conditions are characterized by thickened, scaly skin due to a defective skin barrier.

How is ABCA12 Related to Histology?

In histological studies, ABCA12 can be identified using immunohistochemistry techniques. By staining skin sections, researchers can observe the localization and expression levels of ABCA12, providing insights into its role in skin pathology and normal physiology.

What are the Clinical Implications?

Understanding the function and pathology associated with ABCA12 is essential for the diagnosis and treatment of related skin disorders. Therapeutic strategies may include gene therapy, targeted drug delivery, and skin barrier repair interventions.

Can ABCA12 Serve as a Biomarker?

Due to its specific role and expression in the skin, ABCA12 has the potential to serve as a biomarker for certain skin conditions. Its presence or absence, as well as the nature of any mutations, can aid in diagnosing and understanding the severity of skin diseases.

Research and Future Directions

Ongoing research is focused on elucidating the detailed mechanisms of ABCA12-mediated lipid transport and its broader implications in skin health and disease. Advances in genetic engineering and molecular biology are paving the way for novel therapeutic approaches to treat ABCA12-related skin conditions.

Relevant Publications

Hair follicles modulate skin barrier function.

Issue Release: 2024

A Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area.

Issue Release: 2023

Exosome-mediated lnc-ABCA12-3 promotes proliferation and glycolysis but inhibits apoptosis by regulating the toll-like receptor 4/nuclear factor kappa-B signaling pathway in esophageal squamous cell carcinoma.

Issue Release: 2023

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Issue Release: 2023

Keratosis pilaris: an update and approach to management.

Issue Release: 2023

Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).

Issue Release: 2023

Assessing the Use of Ustekinumab in a Pediatric Patient With Harlequin Ichthyosis.

Issue Release: 2023

Coordinated reprogramming of renal cancer transcriptome, metabolome and secretome associates with immune tumor infiltration.

Issue Release: 2023

Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review.

Issue Release: 2023

Harlequin Ichthyosis: A Fatal Case Report in Al-Medina, Saudi Arabia.

Issue Release: 2022

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.

Issue Release: 2022

Identification of Survival-Related Metabolic Genes and a Novel Gene Signature Predicting the Overall Survival for Patients with Uveal Melanoma.

Issue Release: 2022

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.

Issue Release: 2022

An insight into the runs of homozygosity distribution and breed differentiation in Mangalitsa pigs.

Issue Release: 2022

Whole transcriptome expression array analysis of human colon fibroblasts culture treated with Helichrysum italicum supports its use in traditional medicine.

Issue Release: 2022

Lnc-ABCA12-8 confers acquired resistance to gefitinib in non-small cell lung cancer by regulating the alternative splicing of fibronectin 1 in the IIICS region.

Issue Release: 2022

Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report.

Issue Release: 2021

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

Issue Release: 2021

Genome-Scale CRISPR-Cas9 Transcriptional Activation Screening in Metformin Resistance Related Gene of Prostate Cancer.

Issue Release: 2021

Topical Aminosalicylic Acid Improves Keratinocyte Differentiation in an Inducible Mouse Model of Harlequin Ichthyosis.

Issue Release: 2020

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