ABCA12

Summary

ABCA12 (ATP binding cassette subfamily A member 12, HGNC:14637) is a protein-coding gene on chromosome 2q35, encoding Glucosylceramide transporter ABCA12 (Q86UK0). 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 ke….

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 26154 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal recessive congenital ichthyosis 4B (Definitive, GenCC) — +4 more curated relationships
• Clinical variants (ClinVar): 1,807 total — 110 pathogenic, 89 likely-pathogenic
• Phenotypes (HPO): 54
• MANE Select transcript: NM_173076

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14637
Approved symbol	ABCA12
Name	ATP binding cassette subfamily A member 12
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434G232, LI2
Ensembl gene	ENSG00000144452
Ensembl biotype	protein_coding
OMIM	607800
Entrez	26154

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000272895, ENST00000389661, ENST00000412081

RefSeq mRNA: 2 — MANE Select: NM_173076 NM_015657, NM_173076

CCDS: CCDS33372, CCDS33373

Canonical transcript exons

ENST00000272895 — 53 exons

Exon	Start	End
ENSE00000785453	214934078	214934215
ENSE00000785454	214937510	214937615
ENSE00000796793	214942925	214943017
ENSE00000965174	215001558	215001737
ENSE00000965175	215000705	215001020
ENSE00000965176	214997695	214997809
ENSE00000965185	214989552	214989621
ENSE00000965187	214986542	214986728
ENSE00000965188	214982187	214982383
ENSE00000965194	214980483	214980643
ENSE00000965195	214978804	214979040
ENSE00000965196	214978316	214978466
ENSE00000965197	214975785	214976037
ENSE00000965198	214974778	214974864
ENSE00000965199	214973949	214974042
ENSE00000965200	214970273	214970400
ENSE00000965201	214968720	214968807
ENSE00000965203	214958277	214958454
ENSE00000965204	214956663	214956778
ENSE00000965205	214955202	214955361
ENSE00000965206	214953854	214954107
ENSE00000965207	214950879	214951083
ENSE00000965208	214949040	214949149
ENSE00000965209	214948596	214948737
ENSE00000965969	215026820	215026938
ENSE00000965970	215025673	215025779
ENSE00001038423	215004209	215004299
ENSE00001038424	215019540	215019796
ENSE00001038465	215019336	215019448
ENSE00001038489	214990702	214991031
ENSE00001038505	215018008	215018132
ENSE00001147155	214966848	214966953
ENSE00001159716	214987647	214987793
ENSE00001159727	214945001	214945104
ENSE00001218062	215010331	215010470
ENSE00001218069	215011439	215011649
ENSE00001218123	214947422	214947556
ENSE00001218183	214959024	214959078
ENSE00001218264	214989329	214989463
ENSE00001218297	215007727	215007846
ENSE00001218314	215011971	215012135
ENSE00001218381	215031821	215031896
ENSE00001294976	215036953	215037065
ENSE00001319569	215045837	215046015
ENSE00001332834	215049626	215049811
ENSE00001332836	215052487	215052584
ENSE00001332837	215054573	215054664
ENSE00001332839	215064066	215064219
ENSE00001332840	215111597	215111690
ENSE00001332842	215138140	215138626
ENSE00001506513	214983647	214983865
ENSE00001506521	215015490	215015663
ENSE00001865752	214931542	214932741

Expression profiles

Bgee: expression breadth broad, 95 present calls, max score 91.76.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6735 / max 155.4044, expressed in 236 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
33558	0.8893	195
33559	0.6234	176
33560	0.1151	64
33561	0.0457	17

Top tissues by expression

258 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
penis	UBERON:0000989	91.76	gold quality
upper leg skin	UBERON:0004262	89.78	gold quality
upper arm skin	UBERON:0004263	89.21	gold quality
mammalian vulva	UBERON:0000997	88.50	gold quality
skin of leg	UBERON:0001511	84.69	gold quality
skin of abdomen	UBERON:0001416	84.33	gold quality
zone of skin	UBERON:0000014	84.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.83	gold quality
skin of hip	UBERON:0001554	73.77	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.25	gold quality
cervix epithelium	UBERON:0004801	67.98	gold quality
lower esophagus mucosa	UBERON:0035834	63.82	gold quality
esophagus mucosa	UBERON:0002469	61.30	gold quality
vagina	UBERON:0000996	61.14	gold quality
tongue squamous epithelium	UBERON:0006919	60.74	gold quality
gingival epithelium	UBERON:0001949	60.47	gold quality
gingiva	UBERON:0001828	59.90	gold quality
oviduct epithelium	UBERON:0004804	59.14	silver quality
nipple	UBERON:0002030	57.16	gold quality
tonsil	UBERON:0002372	54.98	gold quality
ganglionic eminence	UBERON:0004023	54.73	silver quality
cortical plate	UBERON:0005343	54.13	gold quality
uterine cervix	UBERON:0000002	54.05	gold quality
cervix squamous epithelium	UBERON:0006922	53.72	silver quality
pigmented layer of retina	UBERON:0001782	52.27	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	50.98	gold quality
ventricular zone	UBERON:0003053	50.85	silver quality
corpus epididymis	UBERON:0004359	50.62	gold quality
nasal cavity mucosa	UBERON:0001826	49.89	gold quality
bone marrow cell	CL:0002092	49.61	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.88

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1H3, PPARA, PPARG, RARA, VDR

miRNA regulators (miRDB)

49 targeting ABCA12, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-130A-5P	99.33	70.26	2623

Literature-anchored findings (GeneRIF, showing 40)

• Cloning, characterization and chromosome mapping of ABCA12. (PMID:12697999)
• Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. (PMID:12915478)
• Sequencing of the ABCA12 gene, which maps within the minimal region defined by homozygosity mapping, revealed disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI. (PMID:15756637)
• 5 distinct ABCA12 mutations, either in a compound heterozygous or homozygous state, in patients from 4 harlequin ichthyosis families (PMID:16007253)
• These mutation data establish ABCA12 as the major harlequin ichthyosis gene. (PMID:16902423)
• study identified two novel ABCA12 mutations in two unrelated non-bullous congenital ichthyosiform erythroderma patients; both patients presented with multiple skin malignancies including malignant melanoma (PMID:17508018)
• Our findings demonstrate that ABCA12 is highly expressed in fetal skin and suggest that ABCA12 may play an essential role under both the wet and dry conditions. (PMID:17591952)
• PPAR and LXR activators regulate ABCA12 expression in human keratinocytes. (PMID:17611579)
• ABCA12 plays an important role in lipid transport from the Golgi apparatus to lamellar granules in human granular layer keratinocytes. (PMID:17927575)
• mutation analysis of twelve families demonstrated novel and recurring ABCA12 mutations (PMID:17986308)
• ABCA12 is reduced in harlequin ichrhyosis and thus is a key molecule in regulating keratinocyte differentiation and transporting specific proteases associated with desquamation. (PMID:19179616)
• ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. (PMID:19262603)
• ceramide, an important lipid component of epidermis, up-regulates ABCA12 expression via the PPARdelta-mediated signaling pathway, providing a substrate-driven, feed-forward mechanism for regulating this key lipid transporter (PMID:19429679)
• loss of ABCA12 function leads to a defective lipid barrier in the stratum corneum, resulting in an ichthyotic phenotype (Review) (PMID:20672373)
• Our results clearly demonstrate that ABCA12 deficiency impairs glucosylceramide accumulation in lamellar bodies, thereby strongly indicating that ABCA12 transports glucosylceramide to the inner leaflet of lamellar bodies. (PMID:20869849)
• Mutation analysis revealed that 52% of the survivors of harlequin ichthyosis had compound heterozygous mutations of ABCA12, whereas all deaths were associated with homozygous mutations of ABCA12. (PMID:21339420)
• AKT signaling helps ABCA12 deficient keratinocytes survive during the keratinization process. (PMID:21633372)
• The authors report on a 2282del4 mutation that may be associated with ichthyosis vulgaris in a Pakistani population. (PMID:21712002)
• The researchers report on another fatal case of Harlequin ichthyosis that may be associated with mutations of the ABCA12 gene (PMID:21798141)
• We show that homozygosity for a novel c.4676G>T transition in the ABCA12 gene, resulting in a p.G1559V substitution, causes non-bullous congenital ichthyosiform erythroderms in 5 members of an extended family. (PMID:22257947)
• Report a consanguineous family of Arab Muslim origin with several members displaying a severe form of congenital ichthyosiform erythroderma. Identified a region of homozygosity shared by all patients on 2q34, in a region harbouring the ABCA12 gene. (PMID:23528209)
• ABCA12 mutations result in defective lipid transport via lamellar granules in the keratinocytes, leading to ichthyosis phenotypes from malformation of the stratum corneum lipid barrier. (PMID:23954554)
• Identification of the key promoter element of ABCA12 in this study may provide relevant information for genetic diagnosis of recessive congenital ichthyosis. (PMID:25338618)
• Ssnger sequencing of the parents of neonates deceased patients with Harlequin ichthyosis identified novel mutations in ABCA12 gene. (PMID:25479012)
• Autosomal recessive inheritance of mutations in the ATP-binding cassette, subfamily A, member 12 (ABCA12, OMIM*607800, chromosome 2q35) gene was found to be responsible for the disease. (PMID:25563821)
• we identified three novel mutations and one reported mutation in the TGM1 and ABCA12 genes, respectively, in affected siblings of five Saudi unrelated families (PMID:27061915)
• two missense ABCA12 mutations were uncovered in both of the affected brothers. (PMID:28236338)
• Genes ABCC7, A3, A8, A12, and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels. (PMID:28468577)
• the present study has identified a novel homozygous deleterious intronic variant, which is associated with a severe phenotype of HI. (PMID:29377090)
• Letter: describe ABCA12 mutations in patients with autosomal recessive congenital ichthyosis and report evidence of a founder effect of this mutation in the Spanish population. (PMID:29887490)
• A novel heterozygous missense mutation was identified in ATP-binding cassette sub-family A member 12 (ABCA12) within a family afflicted with keratosis pilaris. In addition, upregulated ABCA12 expression levels in the sebaceous glands of patients with nevus comedonicus were investigated. (PMID:30066947)
• Positive selection in Europeans and East-Asians at the ABCA12 gene. (PMID:30890716)
• A novel pathogenic variant Val1927Leu was identified in a patient with severe harlequin ichthyosis. (PMID:30916489)
• Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. (PMID:35964051)
• Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. (PMID:36980989)
• Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations. (PMID:37602715)
• Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes. (PMID:37752865)
• Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP). (PMID:37762265)
• Novel variants in ABCA12 cause erythrokeratodermia variabilis. (PMID:38085035)
• Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. (PMID:38540347)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	abca12	ENSDARG00000074749
mus_musculus	Abca12	ENSMUSG00000050296
rattus_norvegicus	Abca12	ENSRNOG00000015248
drosophila_melanogaster	Eato	FBGN0028539
drosophila_melanogaster	CG1494	FBGN0031169
drosophila_melanogaster	Abca3	FBGN0031170
drosophila_melanogaster	CG1801	FBGN0031171
drosophila_melanogaster	CG8908	FBGN0034493
drosophila_melanogaster	CG6052	FBGN0036747
drosophila_melanogaster	CG31213	FBGN0051213
drosophila_melanogaster	ldd	FBGN0083956
caenorhabditis_elegans		WBGENE00000019
caenorhabditis_elegans	abt-2	WBGENE00000020
caenorhabditis_elegans		WBGENE00000022
caenorhabditis_elegans	abt-5	WBGENE00000023

Paralogs (11): ABCA7 (ENSG00000064687), ABCA2 (ENSG00000107331), ABCA8 (ENSG00000141338), ABCA9 (ENSG00000154258), ABCA6 (ENSG00000154262), ABCA10 (ENSG00000154263), ABCA5 (ENSG00000154265), ABCA1 (ENSG00000165029), ABCA3 (ENSG00000167972), ABCA13 (ENSG00000179869), ABCA4 (ENSG00000198691)

Protein

Protein identifiers

Glucosylceramide transporter ABCA12 — Q86UK0 (reviewed: Q86UK0)

Alternative names: ATP-binding cassette sub-family A member 12, ATP-binding cassette transporter 12

All UniProt accessions (2): Q86UK0, E9PBK1

UniProt curated annotations — full annotation on UniProt →

Function. 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. In the meantime, participates in the transport of the lamellar granules-associated proteolytic enzymes, in turn regulates desquamation and keratinocyte differentiation. Furthermore, is essential for the regulation of cellular cholesterol homeostasis by regulating ABCA1-dependent cholesterol efflux from macrophages through interaction with NR1H2 and ABCA1. 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. Also involved in lung surfactant biogenesis.

Subunit / interactions. Interacts with NR1H2 and ABCA1; this interaction is required for ABCA1 localization to the cell surface and is necessary for its normal activity and stability.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle membrane. Golgi apparatus membrane.

Tissue specificity. Mainly expressed in the stomach, placenta, testis and fetal brain. Expressed in the upper epidermal layers, mainly the granular layers, of skin. Expressed throughout the normal interfollicular epidermis with prominent expression in the stratum granulosum. Expressed in alpha and beta cells of pancreatic islets.

Disease relevance. Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. The disease is caused by variants affecting the gene represented in this entry. Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500] A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling ‘armor plating’. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.

Induction. Up-regulated during keratinization. Up-regulated after 15 weeks estimated gestational age (EGA). Highly up-regulated by PPARG activators such as ciglitazone, troglitazone, and the PPARD activator GW 0742 in time- and dose-dependent manner but independently of keratinocyte differentiation. In addition, modestly up-regulated by the NR1H3 and NR1H2 activator TO901317 in an keratinocyte differentiation-independent manner. Up-regulated by N-(hexanoyl)sphing-4-enine in a time- and dose-dependent manner or by glucosyltransferase inhibitors, ceramidase inhibitors and sphingomyelin synthase inhibitors that increase endogenous ceramide levels and induce ABCA12 expression via the PPARD signaling pathway. Up-regulated by N-acetylsphingosine in a time- and dose-dependent manner via the PPARD signaling pathway.

Similarity. Belongs to the ABC transporter superfamily. ABCA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86UK0-1	1	yes
Q86UK0-2	2

RefSeq proteins (2): NP_056472, NP_775099* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR013525	ABC2_TM	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR026082	ABCA	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR056264	R2_ABCA1-4-like	Domain

Pfam: PF00005, PF12698, PF23321

Catalyzed reactions (Rhea), 1 shown:

• a beta-D-glucosylceramide(in) + ATP + H2O = a beta-D-glucosylceramide(out) + ADP + phosphate + H(+) (RHEA:66660)

UniProt features (91 total): glycosylation site 35, sequence variant 29, transmembrane region 14, sequence conflict 4, domain 2, binding site 2, splice variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86UK0-F1	68.32	0.04

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 1378–1385; 2290–2297

Glycosylation sites (35): 156, 174, 214, 275, 333, 367, 383, 412, 435, 528, 543, 577, 608, 623, 648, 752, 826, 920, 963, 1170 …

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-1369062	ABC transporters in lipid homeostasis
R-HSA-5682294	Defective ABCA12 causes ARCI4B
R-HSA-1643685	Disease
R-HSA-382551	Transport of small molecules
R-HSA-382556	ABC-family protein mediated transport
R-HSA-5619084	ABC transporter disorders
R-HSA-5619115	Disorders of transmembrane transporters

MSigDB gene sets: 349 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, JAEGER_METASTASIS_DN, GOCC_SECRETORY_GRANULE, GOBP_INSULIN_SECRETION, GOZGIT_ESR1_TARGETS_DN, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_POSITIVE_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_SURFACE, GOBP_REGULATION_OF_HORMONE_LEVELS

GO Biological Process (26): corneocyte desquamation (GO:0003336), ceramide metabolic process (GO:0006672), lipid transport (GO:0006869), intracellular protein transport (GO:0006886), positive regulation of cholesterol efflux (GO:0010875), cellular homeostasis (GO:0019725), keratinization (GO:0031424), positive regulation of intracellular lipid transport (GO:0032379), secretion by cell (GO:0032940), cholesterol efflux (GO:0033344), phospholipid efflux (GO:0033700), ceramide transport (GO:0035627), surfactant homeostasis (GO:0043129), regulated exocytosis (GO:0045055), regulation of keratinocyte differentiation (GO:0045616), lung alveolus development (GO:0048286), lipid homeostasis (GO:0055088), regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178), establishment of skin barrier (GO:0061436), protein localization to plasma membrane (GO:0072659), positive regulation of protein localization to cell surface (GO:2000010), keratinocyte differentiation (GO:0030216), positive regulation of cholesterol transport (GO:0032376), lipid translocation (GO:0034204), establishment of localization in cell (GO:0051649), transmembrane transport (GO:0055085)

GO Molecular Function (11): signaling receptor binding (GO:0005102), lipid carrier activity (GO:0005319), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), ATPase-coupled lipid transmembrane transporter activity (GO:0034040), apolipoprotein A-I receptor binding (GO:0034191), ATPase-coupled transmembrane transporter activity (GO:0042626), ATPase-coupled intramembrane lipid carrier activity (GO:0140326), ABC-type transporter activity (GO:0140359), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (11): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), transport vesicle membrane (GO:0030658), epidermal lamellar body (GO:0097209), epidermal lamellar body membrane (GO:0097234), Golgi apparatus (GO:0005794), secretory granule membrane (GO:0030667), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
ABC-family protein mediated transport	1
ABC transporter disorders	1
Transport of small molecules	1
Disorders of transmembrane transporters	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent activity	3
bounding membrane of organelle	3
cellular anatomical structure	3
cytoplasm	3
keratinocyte differentiation	2
ATPase-coupled transmembrane transporter activity	2
cytoplasmic vesicle membrane	2
corneocyte development	1
delamination	1
sphingolipid metabolic process	1
transport	1
lipid localization	1
intracellular protein localization	1
protein transport	1
intracellular transport	1
regulation of cholesterol efflux	1
positive regulation of cholesterol transport	1
cholesterol efflux	1
homeostatic process	1
multicellular organismal process	1
intracellular lipid transport	1
positive regulation of lipid transport	1
regulation of intracellular lipid transport	1
positive regulation of intracellular transport	1
secretion	1
export from cell	1
cholesterol transport	1
phospholipid transport	1
lipid transport	1
nitrogen compound transport	1
multicellular organismal-level chemical homeostasis	1
exocytosis	1
regulation of epidermal cell differentiation	1
lung development	1
anatomical structure development	1
chemical homeostasis	1
insulin secretion involved in cellular response to glucose stimulus	1
regulation of insulin secretion	1
regulation of cellular localization	1
skin epidermis development	1

Protein interactions and networks

STRING

1110 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCA12	CYP4F22	Q6NT55	977
ABCA12	TGM1	P22735	951
ABCA12	NIPAL4	Q0D2K0	920
ABCA12	LIPN	Q5VXI9	829
ABCA12	CST6	Q15828	813
ABCA12	ALOX12B	O75342	794
ABCA12	ALOXE3	Q9BYJ1	794
ABCA12	PNPLA1	Q8N8W4	784
ABCA12	CERS3	Q8IU89	709
ABCA12	LORICRIN	P23490	658
ABCA12	FLG	P20930	633
ABCA12	SDR9C7	Q8NEX9	631
ABCA12	FLG2	Q5D862	616
ABCA12	TINCR	A0A2R8Y7D0	560
ABCA12	ABCD4	O14678	554

IntAct

11 interactions, top by confidence:

A	B	Type	Score
ABCA1	ABCA12	psi-mi:“MI:0403”(colocalization)	0.590
ABCA12	ABCA1	psi-mi:“MI:0915”(physical association)	0.590
ABCA12	ABCA1	psi-mi:“MI:2364”(proximity)	0.590
NR1H2	ABCA1	psi-mi:“MI:0914”(association)	0.420
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
BMI1	MEIS3P1	psi-mi:“MI:0914”(association)	0.350
MBNL1	A2ML1	psi-mi:“MI:0914”(association)	0.350
SMPD2	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): ABCA12 (Protein-RNA), ABCA12 (Affinity Capture-MS), ABCA12 (Affinity Capture-MS), ABCA12 (Affinity Capture-MS), ABCA12 (Affinity Capture-MS), ABCA12 (Synthetic Lethality), ABCA12 (Proximity Label-MS), ABCA12 (Proximity Label-MS), ABCA12 (Proximity Label-MS), GATAD2B (Cross-Linking-MS (XL-MS)), HDAC1 (Cross-Linking-MS (XL-MS)), EEA1 (Cross-Linking-MS (XL-MS)), ABCA12 (Affinity Capture-MS), ABCA12 (Proximity Label-MS), ABCA12 (Proximity Label-MS)

ESM2 similar proteins: A0JPP4, A6H7F9, A7WNB0, C0HMB7, C6KI89, E9Q355, E9Q876, F5HGK9, O36397, O75969, O77797, P01586, P03319, P04823, P06740, P14683, P25140, P28907, Q00997, Q02484, Q15846, Q2TAV2, Q2YDM0, Q3TBN1, Q3ZRW6, Q3ZRW7, Q3ZRW9, Q499E0, Q5BK38, Q5BKX0, Q5CCK0, Q5RBQ2, Q5RDR5, Q5RII3, Q5SSE9, Q5VAN0, Q68FB2, Q6AY76, Q6DFY8, Q6UWF9

Diamond homologs: A0A0G2K1Q8, C0SPB4, E9PU17, E9PX95, E9Q876, F1MWM0, O35600, O52618, O95477, P08720, P0A9U1, P0A9U2, P0DXG8, P0DXU5, P0DXU7, P19844, P22040, P23703, P26050, P30750, P32010, P36879, P37624, P41233, P41234, P44785, P50332, P54592, P55476, P63355, P63356, P70970, P72335, P78363, P94374, P94440, Q05067, Q0I5E9, Q0TLD2, Q13ZJ1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1807 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	110
Likely pathogenic	89
Uncertain significance	422
Likely benign	907
Benign	105

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1385145	NM_173076.3(ABCA12):c.1210C>T (p.Arg404Ter)	Pathogenic
1526238	NM_173076.3(ABCA12):c.4540C>T (p.Arg1514Cys)	Pathogenic
152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	Pathogenic
1686889	NM_173076.3(ABCA12):c.3656C>T (p.Ala1219Val)	Pathogenic
1693261	NM_173076.3(ABCA12):c.7344-1G>C	Pathogenic
1997979	NM_173076.3(ABCA12):c.2946del (p.Lys982fs)	Pathogenic
2094179	NM_173076.3(ABCA12):c.5963del (p.Ile1987_Leu1988insTer)	Pathogenic
2096804	NM_173076.3(ABCA12):c.6167dup (p.Lys2057fs)	Pathogenic
2203257	NM_173076.3(ABCA12):c.5848C>T (p.Arg1950Ter)	Pathogenic
2203258	NM_173076.3(ABCA12):c.3666C>A (p.Tyr1222Ter)	Pathogenic
2427498	NC_000002.11:g.(?215917191)(215919408_?)del	Pathogenic
2434711	NM_173076.3(ABCA12):c.5641C>T (p.Arg1881Ter)	Pathogenic
2505564	NM_173076.3(ABCA12):c.5469_5472del	Pathogenic
2506520	NM_173076.3(ABCA12):c.5046_5050del (p.Lys1682fs)	Pathogenic
264997	NM_173076.3(ABCA12):c.178C>T (p.Arg60Ter)	Pathogenic
264999	NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter)	Pathogenic
265000	NM_173076.3(ABCA12):c.1300C>T (p.Arg434Ter)	Pathogenic
265001	NM_173076.3(ABCA12):c.2140C>T (p.Arg714Ter)	Pathogenic
265004	NM_173076.3(ABCA12):c.3256A>T (p.Lys1086Ter)	Pathogenic
265005	NM_173076.3(ABCA12):c.3889C>T (p.Arg1297Ter)	Pathogenic
2699455	NM_173076.3(ABCA12):c.5607C>G (p.Tyr1869Ter)	Pathogenic
2703432	NM_173076.3(ABCA12):c.4119del (p.Thr1374fs)	Pathogenic
2703892	NM_173076.3(ABCA12):c.5641del (p.Arg1881fs)	Pathogenic
2705444	NM_173076.3(ABCA12):c.6037C>T (p.Gln2013Ter)	Pathogenic
2708066	NM_173076.3(ABCA12):c.5446_5447del (p.Met1816fs)	Pathogenic
2718324	NM_173076.3(ABCA12):c.2394G>A (p.Trp798Ter)	Pathogenic
2727250	NM_173076.3(ABCA12):c.3908_3911dup (p.Lys1304fs)	Pathogenic
2734375	NM_173076.3(ABCA12):c.6858del (p.Phe2286fs)	Pathogenic
2734376	NM_173076.3(ABCA12):c.4543C>T (p.Arg1515Ter)	Pathogenic
2734377	NM_173076.3(ABCA12):c.3673C>T (p.Arg1225Ter)	Pathogenic

SpliceAI

6964 predictions. Top by Δscore:

Variant	Effect	Δscore
2:214934073:CTTAC:C	donor_loss	1.0000
2:214934074:TTACC:T	donor_loss	1.0000
2:214934077:C:CA	donor_loss	1.0000
2:214934077:CCT:C	donor_gain	1.0000
2:214934211:TGATC:T	acceptor_gain	1.0000
2:214934212:GATC:G	acceptor_gain	1.0000
2:214934212:GATCC:G	acceptor_gain	1.0000
2:214934213:ATC:A	acceptor_gain	1.0000
2:214934213:ATCCT:A	acceptor_gain	1.0000
2:214934214:TC:T	acceptor_gain	1.0000
2:214934214:TCCTG:T	acceptor_gain	1.0000
2:214934215:CCTG:C	acceptor_gain	1.0000
2:214934215:CCTGT:C	acceptor_gain	1.0000
2:214934216:C:CA	acceptor_loss	1.0000
2:214934216:C:CC	acceptor_gain	1.0000
2:214934216:C:T	acceptor_gain	1.0000
2:214934218:G:C	acceptor_gain	1.0000
2:214934218:G:GC	acceptor_gain	1.0000
2:214934226:C:CT	acceptor_gain	1.0000
2:214934226:C:T	acceptor_gain	1.0000
2:214934227:A:T	acceptor_gain	1.0000
2:214937506:TTACT:T	donor_loss	1.0000
2:214937507:TAC:T	donor_loss	1.0000
2:214937508:A:AC	donor_gain	1.0000
2:214937508:ACTTT:A	donor_loss	1.0000
2:214937509:C:CT	donor_gain	1.0000
2:214937611:CAAAC:C	acceptor_gain	1.0000
2:214937613:AAC:A	acceptor_gain	1.0000
2:214937614:AC:A	acceptor_gain	1.0000
2:214937615:CC:C	acceptor_gain	1.0000

AlphaMissense

17146 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:214937595:A:T	V2486D	1.000
2:214942930:C:A	K2477N	1.000
2:214942930:C:G	K2477N	1.000
2:214945059:A:G	W2429R	1.000
2:214945059:A:T	W2429R	1.000
2:214945061:A:G	L2428P	1.000
2:214945093:G:C	S2417R	1.000
2:214945093:G:T	S2417R	1.000
2:214945095:T:G	S2417R	1.000
2:214945097:G:C	P2416R	1.000
2:214945097:G:T	P2416Q	1.000
2:214945100:T:A	E2415V	1.000
2:214947473:T:A	R2396S	1.000
2:214947473:T:G	R2396S	1.000
2:214947474:C:G	R2396T	1.000
2:214947483:C:T	G2393D	1.000
2:214948686:C:A	Q2338H	1.000
2:214948686:C:G	Q2338H	1.000
2:214949126:A:C	N2292K	1.000
2:214949126:A:T	N2292K	1.000
2:214949133:C:T	G2290E	1.000
2:214949134:C:G	G2290R	1.000
2:214949134:C:T	G2290R	1.000
2:214949139:A:G	L2288P	1.000
2:214980502:A:G	L1574P	1.000
2:214980580:G:T	A1548D	1.000
2:214980586:C:G	R1546P	1.000
2:214980591:A:C	S1544R	1.000
2:214980591:A:T	S1544R	1.000
2:214980593:T:G	S1544R	1.000

dbSNP variants (sampled 300 via entrez): RS1000025382 (2:215132647 T>C), RS1000049903 (2:215011248 C>T), RS1000056770 (2:215132333 G>A,T), RS1000068243 (2:215000946 C>T), RS1000078845 (2:214952492 A>G), RS1000086849 (2:215000323 G>C), RS1000102250 (2:214965520 CTTAAA>C), RS1000125835 (2:215103507 T>C), RS1000142296 (2:215048595 C>A,T), RS1000158051 (2:215054851 T>C), RS1000159410 (2:214958092 C>T), RS1000161150 (2:214979613 C>T), RS1000176241 (2:215055753 A>C), RS1000179206 (2:215041551 C>A), RS1000225019 (2:215066904 G>C)

Disease associations

OMIM: gene MIM:607800 | disease phenotypes: MIM:601277, MIM:242500, MIM:114480

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal recessive congenital ichthyosis 4B	Definitive	Autosomal recessive
autosomal recessive congenital ichthyosis 4A	Strong	Autosomal recessive
autosomal recessive congenital ichthyosis	Strong	Autosomal recessive
lamellar ichthyosis	Supportive	Autosomal recessive
congenital non-bullous ichthyosiform erythroderma	Supportive	Autosomal recessive

Mondo (8): autosomal recessive congenital ichthyosis 4A (MONDO:0011026), autosomal recessive congenital ichthyosis 4B (MONDO:0009443), lamellar ichthyosis (MONDO:0017778), breast ductal adenocarcinoma (MONDO:0005590), hereditary breast carcinoma (MONDO:0016419), ichthyosis (MONDO:0019269), congenital non-bullous ichthyosiform erythroderma (MONDO:0019306), autosomal recessive congenital ichthyosis (MONDO:0017265)

Orphanet (4): Lamellar ichthyosis (Orphanet:313), Harlequin ichthyosis (Orphanet:457), Hereditary breast cancer (Orphanet:227535), Ichthyosis (Orphanet:79354)

HPO phenotypes

54 total (30 of 54 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000083	Renal insufficiency
HP:0000164	Abnormality of the dentition
HP:0000232	Everted lower lip vermilion
HP:0000364	Hearing abnormality
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000457	Depressed nasal ridge
HP:0000491	Keratitis
HP:0000518	Cataract
HP:0000520	Proptosis
HP:0000656	Ectropion
HP:0000958	Dry skin
HP:0000962	Hyperkeratosis
HP:0000966	Hypohidrosis
HP:0000982	Palmoplantar keratoderma
HP:0000989	Pruritus
HP:0001019	Erythroderma
HP:0001161	Hand polydactyly
HP:0001217	Clubbing
HP:0001258	Spastic paraplegia
HP:0001270	Motor delay
HP:0001376	Limitation of joint mobility
HP:0001433	Hepatosplenomegaly
HP:0001508	Failure to thrive
HP:0001522	Death in infancy
HP:0001596	Alopecia
HP:0001597	Abnormal nail morphology
HP:0001622	Premature birth
HP:0001645	Sudden cardiac death

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D007057	Ichthyosis	C16.131.831.512; C16.614.492; C17.800.428.333; C17.800.804.512
C562840	Breast Cancer, Familial (supp.)
C537264	Lamellar ichthyosis, type 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2888327	ABCA12		0.00	0
rs10182702	ABCA12		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — ABCA subfamily

CTD chemical–gene interactions

49 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	5
Aflatoxin B1	affects expression, decreases methylation, increases expression	4
sodium arsenite	decreases methylation, increases expression	3
Estradiol	decreases expression, affects cotreatment	3
Tetrachlorodibenzodioxin	decreases expression, increases expression, affects cotreatment	3
bisphenol A	increases methylation, affects cotreatment, decreases methylation, decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Vincristine	decreases response to substance, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
arsenite	increases expression	1
butyraldehyde	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment, affects response to substance	1
avobenzone	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
jinfukang	affects cotreatment, increases expression, decreases expression	1
Docetaxel	affects expression, decreases response to substance	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression	1
Allergens	increases expression	1
Amphotericin B	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzalkonium Compounds	increases expression	1

Clinical trials (associated diseases)

49 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04996485	PHASE4	UNKNOWN	Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children
NCT01222000	PHASE3	UNKNOWN	Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00004690	PHASE3	COMPLETED	Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis
NCT05295732	PHASE3	COMPLETED	The ASCEND Study: Evaluating TMB-001 in the Treatment of RXLI or ARCI Ichthyosis
NCT03041038	PHASE2	COMPLETED	The Efficacy and Safety of Secukinumab in Patients With Ichthyoses
NCT03738800	PHASE2	TERMINATED	A Safety, Efficacy and Systemic Exposure Study of CD5789 Cream in Adults and Adolescents With Lamellar Ichthyosis
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT02864082	PHASE2	COMPLETED	A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis
NCT04154293	PHASE2	COMPLETED	A Vehicle Controlled Study to Evaluate Safety and Efficacy of Topical TMB-001 for Treatment of Congenital Ichthyosis
NCT04697056	PHASE2	TERMINATED	A Study to Evaluate the Efficacy and Safety of Imsidolimab (ANB019) in the Treatment of Participants With Ichthyosis
NCT06136403	PHASE2	RECRUITING	A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
NCT06362447	PHASE2	NOT_YET_RECRUITING	Efficacy of Injectable Gentamicin in Hereditary Ichthyosis
NCT00001292	Not specified	COMPLETED	Study of Scaling Disorders and Other Inherited Skin Diseases
NCT05312073	Not specified	COMPLETED	Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery
NCT00040222	Not specified	COMPLETED	Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer
NCT02557776	Not specified	COMPLETED	Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer
NCT03495544	Not specified	UNKNOWN	Study Estimating Association Between Germline Mutations and PD-L1 Expression in Breast Cancer
NCT03959267	Not specified	COMPLETED	Testing a Culturally Adapted Telephone Genetic Counseling Intervention
NCT04058418	Not specified	COMPLETED	Specialist Recommendation on FBC (Familial Breast Cancer) Chemoprevention Prescribing
NCT04125914	Not specified	ACTIVE_NOT_RECRUITING	Weight Management and Health Behavior Intervention in Lowering Cancer Risk for BRCA Positive and Lynch Syndrome Families
NCT04169542	Not specified	RECRUITING	Impact of COVID-19 Pandemic on Out-of-Pocket Costs, Lost Wages, and Unemployment in Patients With Breast Cancer Undergoing Breast Surgery
NCT04197856	Not specified	ACTIVE_NOT_RECRUITING	Direct Information to At-risk Relatives
NCT07292246	Not specified	RECRUITING	A Prospective CohorT Study of HandX - Assisted ENdoscopic MAstectomy: Feasibility and Safety (ATHENA I Study)
NCT07307664	Not specified	RECRUITING	Increasing Germline Genetic Testing for Patients With Cancer
NCT04549792	EARLY_PHASE1	COMPLETED	An Open-Label and Long-Term Extension Study to Evaluate the Efficacy and Safety of Ustekinumab in the Treatment of Patients With Ichthyoses
NCT07050810	EARLY_PHASE1	ENROLLING_BY_INVITATION	Thera-Clean® Microbubbles System in Patients With Skin Diseases
NCT00074685	Not specified	COMPLETED	National Registry for Ichthyosis and Related Disorders
NCT02655861	Not specified	TERMINATED	A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis
NCT03051347	Not specified	COMPLETED	Asthma and Atopic Dermatitis Validation of PROMIS Pediatric Instruments
NCT03417856	Not specified	ENROLLING_BY_INVITATION	Defining the Skin and Blood Biomarkers of Ichthyosis