ABCA12 Gene
protein-coding GIFtS: 55
GCID: GC02M215796
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|
ATP-binding cassette, sub-family A (ABC1), member 12(Previous names: ichthyosis congenita II, lamellar ichthyosis B )
(Previous symbol: ICR2B)
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Aliases
for ABCA12 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ATP-Binding Cassette, Sub-Family A (ABC1), Member 121 2 | | ARCI4B2 | | ICR2B1 2 5 | | ATP-Binding Cassette Sub-Family A Member 122 | | LI21 2 5 | | ABC123 | | ATP-Binding Cassette Transporter 122 3 | | ATP-Binding Cassette 123 | | DKFZP434G2321 | | EC 3.6.38 | | Ichthyosis Congenita II, Lamellar Ichthyosis B1 | | EC 3.6.3.258 | | ARCI4A2 | | |
Export aliases for ABCA12 gene to outside databasesPrevious GC identifers: GC02M213960 GC02M214520 GC02M215760 GC02M215998 GC02M215621 GC02M215504 GC02M207652 |
Summaries
for ABCA12 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ABCA12:
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 aredivided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is amember 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)
UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0Function: Probable transporter involved in lipid homeostasis
Gene Wiki entry for ABCA12
|
Genomic Views
for ABCA12 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ABCA12 gene promoter:
c-Fos Nkx3-1 Nkx3-1 v4 AP-1 Nkx3-1 v1 E4BP4 GATA-1 Nkx3-1 v2 Nkx3-1 v3 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for ABCA12
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCA12 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q34 Ensembl cytogenetic band: 2q35 HGNC cytogenetic band: 2q34ABCA12 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M215796: view genomic region
(about GC identifiers)
Start:
|
215,796,266 bp from pter |
End:
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216,003,151 bp from pter |
Size:
|
206,886 bases |
Orientation:
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minus strand |
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Proteins
for ABCA12 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0 (See
protein sequence)Recommended Name: ATP-binding cassette sub-family A member 12 Size: 2595 amino acids; 293237 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAN40735.1; Type=Erroneous initiation;
Secondary accessions: Q53QE2 Q53S55 Q8IZW6 Q96JT3 Q9Y4M5Alternative splicing: 2 isoforms: Q86UK0-1 Q86UK0-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ABCA12: NX_Q86UK0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q86UK0
3 DME Specific Peptides for ABCA12 (Q86UK0)
ABCA12 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_056472.2 NP_775099.2
ENSEMBL proteins: ENSP00000272895 ENSP00000374312 ENSP00000400231 Reactome Protein details: Q86UK0
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
ABCA12 for ontologies About GeneDecksing
ABCA12 Antibody Products:
Assay Products for ABCA12: |
Protein
Domains /
Families
for ABCA12 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ABCA12 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q86UK0ProtoNet protein and cluster: Q86UK0 UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0Domain: Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domainand an ATP binding cassette (ABC) domain (By similarity)Similarity: Belongs to the ABC transporter superfamily. ABCA familySimilarity: Contains 2 ABC transporter domains |
Function
for ABCA12 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0Function: Probable transporter involved in lipid homeostasisEnzyme Numbers (IUBMB): EC 3.6.32 EC 3.6.3.252
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCA12 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCA12 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ABCA12 (NM_173076) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCA12 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA12 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA12 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
ABCA12 for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for ABCA12: Abca12tm1Shzu Abca12tm1Lex
9 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Abca12):
ABCA12 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ABCA12 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | ABC-family proteins mediated transport | | | 2 | SLC-mediated transmembrane transport | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 
Reactome Pathways for ABCA12
1 
Kegg Pathway (Kegg details for ABCA12):
ABCA12 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCA12
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
ABCA12 for ontologies About GeneDecksing
|
Drugs & Compounds
for ABCA12 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ABCA12 for compounds About GeneDecksing
 Browse Tocris compounds for ABCA12
1 Novoseek chemical compound relationship for ABCA12 gene About this table
Search CenterWatch for drugs/clinical trials and news about ABCA12 / ABCAC
|
Transcripts
for ABCA12 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ABCA12 gene (2 alternative transcripts): NM_015657.3 NM_173076.2 Unigene Cluster for ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12 Hs.134585 [show with all ESTs]Unigene Representative Sequence: NM_1730763 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000272895(uc002vev.3 uc002vew.3 uc010zjn.2) ENST00000389661
ENST00000412081
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCA12 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCA12 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): ABCA12 (NM_173076) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCA12 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA12 |
Additional cDNA sequence: AF418105.1 AK096597.1 AK123578.1 AL080207.1 AY033486.1 AY219711.1 BC144073.1 4 DOTS entries: DT.40283835 DT.102842413 DT.100661918 DT.40236619 20 AceView cDNA sequences: AK096597 AF418105 NM_015657 CR609974 AY033486 NM_173076 AY219711 CN479111 BM745367 BX376131 CD627181 AI081199 AK123578 AA487007 AL080207 CB243323 CD627183 CF887579 CD627187 CD627179
GeneLoc Exon Structure
|
Expression
for ABCA12 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ABCA12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTGTTTGTC
About this image
See ABCA12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABCA12
SOURCE GeneReport for Unigene cluster: Hs.134585
UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0Tissue specificity: Mainly expressed in the stomach, placenta, testis and fetal brain
SABiosciences Expression via Pathway-Focused PCR Array including ABCA12:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABCA12
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ABCA12 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCA12 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCA12 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA12 |
Orthologs
for ABCA12 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for ABCA12 gene from 7/23 species (see all 23) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ABCA121 |
ATP-binding cassette, sub-family A (ABC1), member 12 |
67.16(n)
62.05(a) |
|
424011 XM_421867.3 XP_421867.3 |
lizard
(Anolis carolinensis) |
Reptilia |
ABCA126 |
-- |
56(a) |
1 ↔ 1 |
1(116555398-116742807) |
zebrafish
(Danio rerio) |
Actinopterygii |
abca121 |
ATP-binding cassette, sub-family A (ABC1), member 12 |
55.76(n)
49.28(a) |
|
558335 XM_681540.5 XP_686632.5 |
fruit fly
(Drosophila melanogaster) |
Insecta |
BG:DS00797.53 |
ATP-binding cassette (ABC) transporter |
28(a) |
|
34D1 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
abt-56 |
ABC Transporter family member (abt-5) |
17(a) |
1 → many |
I(12011267-12018659) |
rice
(Oryza sativa) |
Liliopsida |
Os.87722 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
75.69(n) |
|
AK101910.1 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
yadG6 |
predicted transporter subunit: ATP-binding compone... |
26(a) |
possible ortholog |
Chromosome(142779-143705) |
ENSEMBL Gene Tree for ABCA12 (if available)
TreeFam Gene Tree for ABCA12 (if available) |
Paralogs
for ABCA12 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ABCA12 gene
- ABCG12 ABCA12 ABCA102 ABCA132 ABCA32 ABCA82 ABCG42 ABCG82
- ABCA42 ABCA72 ABCG52 ABCA22 ABCA92 ABCA62 ABCA52 ABCG22
11 SIMAP similar genes for ABCA12 using alignment to 2 protein entries: ABCAC_HUMAN (see all proteins):DKFZp547P193 ABC2 ABCA7 ABCA2 DKFZp434E1030 ABC1
ABCA4 ABCA1 ABCG2 ABCA3 DKFZp686K07118
ABCA12 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ABCA12
PGOHUM00000246576
|
Genomic Variants
for ABCA12 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ABCA12 (215796266 - 216003151 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ABCA12: --
Human Gene Mutation Database (HGMD): ABCA12
Locus Specific Mutation Databases (LSDB): ABCA12
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCA12 |
|
Disorders
/ Diseases
for ABCA12 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ABCA12 for disorders About GeneDecksing
OMIM gene information: 607800
OMIM disorders: 601277 242500
UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0
Note=ABCA12 mutations are a cause of different subtypes of autosomal recessive congenital ichthyosis (ARCI),including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma(NCIE). HI shows the most severe phenotype. NCIE and LI are clinically characterized by fine, whitish scales on abackground of erythematous skin, and large, thick, dark scales over the entire body without serious backgrounderythroderma, respectively Defects in ABCA12 are the cause of ichthyosis harlequin (HI) [MIM:242500]. A very severe skin disorder inwhich the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shapedplaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, withdistortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurelyand rarely survive the perinatal period Defects in ABCA12 are the cause of ichthyosis lamellar type 2 (LI2) [MIM:601277]. A non-bullous ichthyosis, askin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyosesapparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent coveringcalled collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalizedlarge, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results inectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrentear infections Defects in ABCA12 are a cause of erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]. Anon-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affectedindividuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membranesubsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than inlamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. Incontrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severelyaffected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and lossof pulp volume
17  diseases for ABCA12: About MalaCardsichthyosis ichthyosis lamellar 2 congenital ichthyosiform erythroderma autosomal recessive congenital ichthyosis
ichthyosis vulgaris ectropion tangier disease skin disease
alopecia alzheimer's disease pharyngitis pancreatic cancer
pancreatitis pneumonia tuberculosis neuronitis
mycobacterium tuberculosis
2 diseases from the University of Copenhagen DISEASES database for ABCA12:Congenital ichthyosiform erythroderma Ectropion 3 Novoseek disease relationships for ABCA12 gene About this table
GeneTests: ABCA12
Autosomal Recessive Congenital Ichthyosis
Genetic Association Database (GAD): ABCA12
Human Genome Epidemiology (HuGE) Navigator: ABCA12 (3 documents)
Export disorders for ABCA12 gene to outside databases
|
Publications
for ABCA12 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ABCA12 gene, integrated from 9 sources (see all 44):
(articles sorted by number of sources associating them with ABCA12) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. (PubMed id 12915478)1, 2, 3, 9 Lefevre C....Fischer J. (2003)
- Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. (PubMed id 12697999)1, 2, 9 Annilo T.... Rosier M. (2002)
- ABCA12 is the major harlequin ichthyosis gene. (PubMed id 16902423)1, 2, 9 Thomas A.C....Kelsell D.P. (2006)
- Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. (PubMed id 15756637)1, 2, 9 Kelsell D.P....O'Toole E.A. (2005)
- Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. (PubMed id 22257947)1, 2 Nawaz S.... Klar J. (2012)
- ABCA12 mutations and autosomal recessive congenital i chthyosis: a review of genotype/phenotype correlations and of pathogenetic conc epts. (PubMed id 20672373)1, 2 Akiyama M. (2010)
- ABCA12 is a major causative gene for non-bullous cong enital ichthyosiform erythroderma. (PubMed id 19262603)1, 2 Sakai K....Shimizu H. (2009)
- Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. (PubMed id 17508018)1, 2 Natsuga K....Shimizu H. (2007)
- No genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's disease. (PubMed id 15980630)1, 4 Ohkubo T....Arai H. (2005)
- The human ATP-binding cassette (ABC) transporter supe rfamily. (PubMed id 11435397)1, 3 Dean M....Allikmets R. (2001)
|
External Searches for ABCA12 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ABCA12 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ABCA12 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ABCA12 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ABCA12 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA12 | | ABCMdb | http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q86UK0 |
|
| | |
About This Section
| Patent Information for ABCA12 gene:
Search GeneIP for patents involving ABCA12
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ABCA12 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ABCA12 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCA12 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABCA12 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ABCA12 | | OriGene 3'-UTR Clone for ABCA12 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCA12 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCA12 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ABCA12 | | OriGene Custom Protein Services for ABCA12 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCA12 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCA12 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCA12 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCA12 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCA12 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCA12 |
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| | | | Search Tocris compounds for ABCA12 |
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 | | | ABCA12 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA12 |
|  |  |  | | | | Search ThermoFisher Antibodies for ABCA12 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA12 |
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