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ABCA12 Gene(Protein Coding)

ATP Binding Cassette Subfamily A Member 12

GCID:
GC02M214931
GIFtS:
52
Genes Participants
UDN Logo

Aliases for ABCA12 Gene

Aliases for ABCA12 Gene

  • ATP Binding Cassette Subfamily A Member 12 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 12 2 3
  • ATP-Binding Cassette Transporter 12 3 4
  • Ichthyosis Congenita II, Lamellar Ichthyosis B 2
  • ATP-Binding Cassette Sub-Family A Member 12 3
  • ATP-Binding Cassette 12 4
  • EC 3.6.3.25 56
  • EC 3.6.3 56
  • ARCI4A 3
  • ARCI4B 3
  • ICR2B 3
  • ABC12 4
  • LI2 3

External Ids for ABCA12 Gene

Previous HGNC Symbols for ABCA12 Gene

  • ICR2B

Previous GeneCards Identifiers for ABCA12 Gene

  • GC02M213960
  • GC02M214520
  • GC02M215760
  • GC02M215998
  • GC02M215621
  • GC02M215504
  • GC02M207652
  • GC02M215796

Summaries for ABCA12 Gene

Entrez Gene Summary for ABCA12 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA12 Gene

ABCA12 (ATP Binding Cassette Subfamily A Member 12) is a Protein Coding gene. Diseases associated with ABCA12 include Ichthyosis, Congenital, Autosomal Recessive 4B and Ichthyosis, Congenital, Autosomal Recessive 4A. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include receptor binding and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA13.

UniProtKB/Swiss-Prot for ABCA12 Gene

  • Probable transporter involved in lipid homeostasis.

Gene Wiki entry for ABCA12 Gene

Additional gene information for ABCA12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA12 Gene

Genomics for ABCA12 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ABCA12 Gene

Promoters and enhancers for ABCA12 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02I215135 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.6 +0.3 269 5.2 PKNOX1 NFIB NEUROD1 EBF1 FEZF1 BATF RELA GATA3 POLR2A NFATC1 ABCA12 BARD1 GC02M215133 GC02P215092 GC02M215139
GH02I215032 Promoter 0.5 EPDnew 550.1 +106.4 106413 0.1 ABCA12 ENSG00000227769 GC02P215092
GH02I215104 Enhancer 0.5 ENCODE 11.5 +31.9 31939 3.4 NONO CEBPB CEBPG FOS ABCA12 GC02P215092 GC02M215133
GH02I215171 Enhancer 0.5 Ensembl 0.3 -32.8 -32821 0.4 IRF2 BCL11A ZNF341 JUNB ATF7 BATF ATIC ABCA12 PIR56994 GC02M215139
GH02I215071 Enhancer 0.6 ENCODE 0.2 +66.6 66621 1.5 SMARCE1 ZNF687 RFX1 DPF2 MNT CEBPG KLF4 FOXA1 ZNF217 CTBP1 GC02P215092 ENSG00000227769 ABCA12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCA12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCA12 gene promoter:

Genomic Locations for ABCA12 Gene

Genomic Locations for ABCA12 Gene
chr2:214,931,542-215,138,580
(GRCh38/hg38)
Size:
207,039 bases
Orientation:
Minus strand
chr2:215,796,266-216,003,151
(GRCh37/hg19)

Genomic View for ABCA12 Gene

Genes around ABCA12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ABCA12 Gene

Proteins for ABCA12 Gene

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  • Protein details for ABCA12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UK0-ABCAC_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 12
    Protein Accession:
    Q86UK0
    Secondary Accessions:
    • Q53QE2
    • Q53S55
    • Q8IZW6
    • Q96JT3
    • Q9Y4M5

    Protein attributes for ABCA12 Gene

    Size:
    2595 amino acids
    Molecular mass:
    293237 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAN40735.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCA12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA12 Gene

Protein Expression for ABCA12 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ABCA12 Gene

Q86UK0:
  • NGAGKTT
  • GPNGAGKT
  • LLGPNGAGK

Post-translational modifications for ABCA12 Gene

  • Glycosylation at posLast=125125, posLast=156156, posLast=174174, posLast=214214, Asn275, posLast=333333, posLast=367367, Asn383, Asn412, Asn435, Asn528, Asn543, Asn577, Asn608, Asn623, Asn648, Asn752, posLast=826826, posLast=920920, posLast=963963, Asn1170, Asn1524, Asn1663, posLast=17041704, Asn1769, Asn1819, posLast=18351835, Asn1876, posLast=19211921, Asn1952, posLast=21782178, posLast=22082208, Asn2223, Asn2318, Asn2542, and Asn2547
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ABCA12 Gene

Gene Families for ABCA12 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCA12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABCA12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86UK0

UniProtKB/Swiss-Prot:

ABCAC_HUMAN :
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
  • Belongs to the ABC transporter superfamily. ABCA family.
Domain:
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA12: view

Function for ABCA12 Gene

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  2. CRISPR
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Molecular function for ABCA12 Gene

UniProtKB/Swiss-Prot Function:
Probable transporter involved in lipid homeostasis.

Enzyme Numbers (IUBMB) for ABCA12 Gene

Phenotypes From GWAS Catalog for ABCA12 Gene

Gene Ontology (GO) - Molecular Function for ABCA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 23931754
GO:0005215 transporter activity IEA --
GO:0005319 lipid transporter activity TAS --
GO:0005515 protein binding IPI 23931754
GO:0005524 ATP binding NAS 12697999
genes like me logo Genes that share ontologies with ABCA12: view
genes like me logo Genes that share phenotypes with ABCA12: view

Human Phenotype Ontology for ABCA12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCA12 Gene

MGI Knock Outs for ABCA12:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCA12

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ABCA12 Gene

Localization for ABCA12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA12 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCA12 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
cytosol 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23931754
GO:0005743 mitochondrial inner membrane IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS,IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ABCA12: view

Pathways & Interactions for ABCA12 Gene

genes like me logo Genes that share pathways with ABCA12: view

Pathways by source for ABCA12 Gene

1 KEGG pathway for ABCA12 Gene

Gene Ontology (GO) - Biological Process for ABCA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport NAS,IEA 12915478
GO:0010875 positive regulation of cholesterol efflux IDA 23931754
GO:0019725 cellular homeostasis NAS 12697999
GO:0030216 keratinocyte differentiation IEA --
genes like me logo Genes that share ontologies with ABCA12: view

No data available for SIGNOR curated interactions for ABCA12 Gene

Drugs & Compounds for ABCA12 Gene

Products:

  1. Drug

(1) Additional Compounds for ABCA12 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCA12: view

Transcripts for ABCA12 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for ABCA12 Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ABCA12 Gene

ATP-binding cassette, sub-family A (ABC1), member 12:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA12 Gene

No ASD Table

Relevant External Links for ABCA12 Gene

GeneLoc Exon Structure for
ABCA12
ECgene alternative splicing isoforms for
ABCA12

Expression for ABCA12 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCA12 Gene

mRNA expression in normal human tissues for ABCA12 Gene
mRNA expression by BioGPS for ABCA12 GenemRNA expression by GTEx for ABCA12 Gene

mRNA differential expression in normal tissues according to GTEx for ABCA12 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x22.6) and Skin - Not Sun Exposed (Suprapubic) (x19.1).

Protein differential expression in normal tissues from HIPED for ABCA12 Gene

This gene is overexpressed in Liver (29.6), Bone (11.3), Bone marrow stromal cell (10.9), Fetal testis (6.4), and Plasma (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ABCA12 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABCA12 Gene:

ABCA12

SOURCE GeneReport for Unigene cluster for ABCA12 Gene:

Hs.134585

mRNA Expression by UniProt/SwissProt for ABCA12 Gene:

Q86UK0-ABCAC_HUMAN
Tissue specificity: Mainly expressed in the stomach, placenta, testis and fetal brain.

Evidence on tissue expression from TISSUES for ABCA12 Gene

  • Eye(4)
  • Pancreas(3.3)
  • Skin(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCA12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with ABCA12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for ABCA12 Gene

Orthologs for ABCA12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCA12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ABCA12 33 34
  • 99.4 (n)
dog
(Canis familiaris)
 Mammalia ABCA12 33 34
  • 91.09 (n)
cow
(Bos Taurus)
 Mammalia ABCA12 33 34
  • 89.22 (n)
mouse
(Mus musculus)
 Mammalia Abca12 33 16 34
  • 86.3 (n)
rat
(Rattus norvegicus)
 Mammalia Abca12 33
  • 86.01 (n)
oppossum
(Monodelphis domestica)
 Mammalia ABCA12 34
  • 82 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ABCA12 34
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ABCA12 33 34
  • 66.58 (n)
lizard
(Anolis carolinensis)
 Reptilia ABCA12 34
  • 56 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC101731410 33
  • 57.38 (n)
zebrafish
(Danio rerio)
 Actinopterygii abca12 33 34
  • 55.8 (n)
fruit fly
(Drosophila melanogaster)
 Insecta BG:DS00797.5 35
  • 28 (a)
worm
(Caenorhabditis elegans)
 Secernentea abt-4 34
  • 27 (a)
 OneToOne
rice
(Oryza sativa)
 Liliopsida Os.8772 33
Species where no ortholog for ABCA12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCA12 Gene

ENSEMBL:
Gene Tree for ABCA12 (if available)
TreeFam:
Gene Tree for ABCA12 (if available)

Paralogs for ABCA12 Gene

Paralogs for ABCA12 Gene

(12) SIMAP similar genes for ABCA12 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for ABCA12 Gene

genes like me logo Genes that share paralogs with ABCA12: view

Variants for ABCA12 Gene

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Sequence variations from dbSNP and Humsavar for ABCA12 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs10185368 likely-benign, Congenital ichthyosiform erythroderma 215,011,476(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs10198064 benign, not specified, Congenital ichthyosiform erythroderma 215,011,647(-) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs10498027 benign, uncertain-significance, not specified, Congenital ichthyosiform erythroderma 214,955,289(-) G/A/T coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs10498030 benign, not specified, Congenital ichthyosiform erythroderma 215,000,851(-) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs112434185 uncertain-significance, Congenital ichthyosiform erythroderma 214,975,812(-) C/A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA12 Gene

Variant ID Type Subtype PubMed ID
esv2675366 CNV deletion 23128226
esv3584349 CNV loss 25503493
esv3594272 CNV loss 21293372
esv3893553 CNV loss 25118596
nsv1012204 CNV gain 25217958
nsv1012743 CNV gain 25217958

Variation tolerance for ABCA12 Gene

Residual Variation Intolerance Score: 6.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.38; 90.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCA12 Gene

Human Gene Mutation Database (HGMD)
ABCA12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA12 Gene

Disorders for ABCA12 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ABCA12 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ABCAC_HUMAN
  • 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. {ECO:0000269 PubMed:12915478, ECO:0000269 PubMed:17508018, ECO:0000269 PubMed:18284401, ECO:0000269 PubMed:19262603, ECO:0000269 PubMed:22257947}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:16675967, ECO:0000269 PubMed:16902423}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ABCA12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCA12: view

No data available for Genatlas for ABCA12 Gene

Publications for ABCA12 Gene

  1. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. (PMID: 12915478) Lefévre C … Fischer J (Human molecular genetics 2003) 2 3 4 22 58
  2. ABCA12 is the major harlequin ichthyosis gene. (PMID: 16902423) Thomas AC … Kelsell DP (The Journal of investigative dermatology 2006) 3 4 22 58
  3. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. (PMID: 15756637) Kelsell DP … O'Toole EA (American journal of human genetics 2005) 3 4 22 58
  4. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. (PMID: 12697999) Annilo T … Rosier M (Cytogenetic and genome research 2002) 3 4 22 58
  5. Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. (PMID: 22257947) Nawaz S … Klar J (European journal of dermatology : EJD 2012) 3 4 58

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