ABCA12

Chr 2q35

ATP binding cassette subfamily A member 12

Aliases:: DKFZP434G232, LI2
MANE:: ENST00000272895.12

OMIM: 607800 ↗NCBI: 26154 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ABCA12 · Q86UK0

v62025-08-01

Predicted Aligned Error matrix for ABCA12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.1/ 100

Low

2,595 residues

Confidence breakdown

Very high(≥ 90)4%
Confident(70–90)51%
Low(50–70)27%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Autosomal recessive congenital ichthyosis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Familial cicatricial alopecia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive congenital ichthyosis 4A
0.80
autosomal recessive congenital ichthyosis 4B
0.79
Harlequin ichthyosis
0.73
lamellar ichthyosis
0.70
autosomal recessive congenital ichthyosis
0.48
congenital non-bullous ichthyosiform erythroderma
0.39
congenital reticular ichthyosiform erythroderma
0.38
ichthyosis
0.37
neurodegenerative disease
0.36
placenta praevia
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glucosylceramide transporter ABCA12

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 (PubMed:16007253, PubMed:20869849). In the meantime, participates in the transport of the lamellar granules-associated proteolytic enzymes, in turn regulates desquamation and keratinocyte differentiation (PubMed:19179616). Furthermore, is essential for the regulation of cellular cholesterol homeostasis by regulating ABCA1-dependent cholesterol efflux from macrophages through interaction with NR1H2 and ABCA1 (By similarity). Plays pleiotropic roles in regulating glucose stimulated insulin secretion from beta cells, regulating the morphology and fusion of insulin granules, lipid raft abundance and the actin cytoskeleton (By similarity). Also involved in lung surfactant biogenesis (By similarity)