ABCA12 Gene
ATP Binding Cassette Subfamily A Member 12
Gene Information Card
| Symbol | ABCA12 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily A Member 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 26154 ncbi.nlm.nih.gov/gene/26154 |
| Ensembl ID | ENSG00000144452 |
| UniProt ID | Q86UK0 |
| OMIM ID | 607800 |
| HGNC ID | 14637 |
| Aliases | DKFZp434H232, ICR2B, LI2 |
Description
ABCA12 encodes a member of the ATP-binding cassette (ABC) transporter superfamily, specifically subfamily A. This protein is involved in lipid transport across cellular membranes, particularly in keratinocytes, and is essential for the formation of the epidermal lipid barrier. Mutations in ABCA12 cause autosomal recessive congenital ichthyosis, including harlequin ichthyosis and lamellar ichthyosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Harlequin Ichthyosis | Loss-of-function mutations in ABCA12 disrupt lipid transport in keratinocytes, leading to severe skin barrier defects and hyperkeratosis. | ClinVar, OMIM |
| Lamellar Ichthyosis Type 2 | Missense or nonsense mutations impair ABCA12 function, resulting in abnormal lipid secretion and scaling skin. | ClinVar, OMIM |
| Ichthyosis Congenita | Biallelic mutations in ABCA12 cause defective epidermal lipid processing, leading to collodion membrane at birth. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | High |
| Esophagus | 3.2 | Low |
| Lung | 1.8 | Low |
| Small Intestine | 1.5 | Low |
| Stomach | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 15.0 | Primary skin cells |
| HaCaT | 8.5 | Immortalized keratinocyte line |
| A431 | 6.2 | Epidermoid carcinoma cell line |
| HEK 293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.7444C>T (p.Arg2482*) | Nonsense | Rare | Loss of function; associated with harlequin ichthyosis |
| c.4139A>G (p.Asn1380Ser) | Missense | Rare | Impaired lipid transport; lamellar ichthyosis |
| c.2023C>T (p.Arg675*) | Nonsense | Rare | Premature truncation; severe ichthyosis |
| c.5711_5712delAA | Frameshift | Rare | Loss of function; harlequin ichthyosis |
Mutation functional classification
Loss of Function (LOF)
Most ABCA12 mutations are loss-of-function, leading to absent or non-functional protein, causing severe ichthyosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • lipid transporter activity | • phospholipid transporter activity |
| • ABC-type lipid transporter activity | • integral component of membrane |
| • plasma membrane | • keratinocyte differentiation |
| • lipid transport | • epidermis development |
Pathways
• ABC transporters
• Metabolism of lipids
• Keratinocyte differentiation
Protein Summary
ABCA12 is a 2595-amino acid transmembrane protein belonging to the ABCA subfamily. It functions as an active lipid transporter, shuttling glucosylceramides and other lipids to lamellar granules in keratinocytes, which is critical for the formation of the stratum corneum lipid barrier. The protein contains two transmembrane domains and two nucleotide-binding domains that hydrolyze ATP to drive transport. Mutations that disrupt its function lead to severe skin disorders characterized by defective barrier formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA12 Knockout HEK293 Cell Line | EDJ-KQ8436 | Human | 26154 | Details Get a Quote |
| ABCA12 Knockout HeLa Cell Line | EDJ-KQ55887 | Human | 26154 | Details Get a Quote |
| ABCA12 Knockout A-549 Cell Line | EDJ-KQ64378 | Human | 26154 | Details Get a Quote |
| ABCA12 Knockout HCT 116 Cell Line | EDJ-KQ72828 | Human | 26154 | Details Get a Quote |
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