ABCA12 encodes ATP binding cassette subfamily A member 12 (2,595 aa). 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. Highest expression in Skin Sun Exposed Lower leg (36.2 TPM) and Skin Not Sun Exposed Suprapubic (32.0 TPM).

Autosomal recessive congenital ichthyosis 4B is associated with mutations in the ABCA12 gene on chromosome 2.

The ABCA12 protein participates in ABCA12 K1671Ifs*4, ABCA12 V2442Sfs*22, and Defective ABCA12 causes ARCI4B pathways.

ABCA12 is classified as a druggable target (Abc Transporter, Druggable Genome, and Transporter categories) with score 0.0.

76 pathogenic variants reported in ABCA12 in ClinVar.

Genetic testing for ABCA12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive congenital ichthyosis 4B has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for autosomal recessive congenital ichthyosis 4B.

33 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 4B. Research spans Case Report / Case Series (45%), Diagnostic / Biomarker (15%), and Review / Meta-Analysis (15%).

Recent Publications

• Lomelí-Valdez R (2026). [PMID: 42062794](https://pubmed.ncbi.nlm.nih.gov/42062794/). *Pediatr Dermatol*. [Case Report / Case Series]

• Elendu C (2026). [PMID: 42052316](https://pubmed.ncbi.nlm.nih.gov/42052316/). *Clin Case Rep*. [Case Report / Case Series]

• Er I (2026). [PMID: 41817683](https://pubmed.ncbi.nlm.nih.gov/41817683/). *Clinical dysmorphology*. [Case Report / Case Series]

• Kurdi A (2026). [PMID: 41912165](https://pubmed.ncbi.nlm.nih.gov/41912165/). *Dermatology practical & conceptual*. [Review / Meta-Analysis]

• Soltani N (2026). [PMID: 41659945](https://pubmed.ncbi.nlm.nih.gov/41659945/). *Clinical case reports*. [Case Report / Case Series]

• Chang CY (2025). [PMID: 39497469](https://pubmed.ncbi.nlm.nih.gov/39497469/). *Clinical and experimental dermatology*. [Basic Science / Preclinical]

• Hamam B (2025). [PMID: 39844889](https://pubmed.ncbi.nlm.nih.gov/39844889/). *Clinical case reports*. [Case Report / Case Series]

• Mahanty S (2025). [PMID: 40552305](https://pubmed.ncbi.nlm.nih.gov/40552305/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]

• Turyasiima M (2025). [PMID: 39882557](https://pubmed.ncbi.nlm.nih.gov/39882557/). *Case reports in dermatological medicine*. [Diagnostic / Biomarker]

• Chang TY (2025). [PMID: 39794051](https://pubmed.ncbi.nlm.nih.gov/39794051/). *Taiwanese journal of obstetrics & gynecology*. [Epidemiology / Natural History]