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ABCA12
| Symbol: | ABCA12 | | Name(s): | ATP-binding cassette, sub-family A (ABC1), member 12 | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | DKFZp434G232, FLJ41584, ICR2B, LI2 | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
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Gene Information from Publications |
| Publication Link |
Summary of findings |
| 15980630 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17927575 |
ABCA12 plays an important role in lipid transport from the Golgi apparatus to lamellar granules in human granular layer keratinocytes. |
| 17611579 |
PPAR and LXR activators regulate ABCA12 expression in human keratinocytes. |
| 17508018 |
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 |
| 15756637 |
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. |
| 16902423 |
These mutation data establish ABCA12 as the major harlequin ichthyosis gene. |
| 16007253 |
5 distinct ABCA12 mutations, either in a compound heterozygous or homozygous state, in patients from 4 harlequin ichthyosis families |
| 12697999 |
Cloning, characterization and chromosome mapping of ABCA12. |
| 17591952 |
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. |
| 12915478 |
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. | →View more information from publications. |
Recent Publications on ABCA12: |  |
Repair of cicatricial ectropion in a harlequin baby.
The ichthyoses are a collection of scaling skin diseases or keratinizing... | 3rd November, 2009
| St. James University Hospital, Leeds, UK.
| J AAPOS. 2009 Aug;13(4):415-6.
DOI Direct Link |
The unfolded protein response is activated in differentiating epidermal keratinocytes.
The unfolded protein response (UPR), which is induced by stress to the... | 23rd October, 2009
| Department of Dermatology, Nagoya University Graduate School of Medicine,
| J Invest Dermatol. 2009 Sep;129(9):2126-35. Epub 2009 Mar 12.
DOI Direct Link |
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.
Chemotherapy failure was reported in treatment of retinoblastoma... | 23rd October, 2009
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| J Invest Dermatol. 2009 Sep;129(9):2306-9. Epub 2009 Mar 5.
DOI Direct Link |
Ceramide stimulates ABCA12 expression via peroxisome proliferator-activated receptor {delta} in human keratinocytes.
ABCA12 (ATP binding cassette transporter, family 12) is a cellular... | 2nd September, 2009
| Metabolism Section, Veterans Affairs Medical Center, Northern California
| J Biol Chem. 2009 Jul 10;284(28):18942-52. Epub 2009 May 8.
DOI Direct Link |
Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.
Harlequin ichthyosis (HI) is the most severe and often lethal form of... | 12th August, 2009
| Laboratory of Molecular and Cell Biology, Istituto Dermopatico
| Clin Genet. 2009 Oct;76(4):392-7. Epub 2009 Aug 3.
DOI Direct Link |
→View more research publications. |
ABCA12 results (if any) from reagent suppliers | 
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ABCA12 (N-16) Antibody sc-48435
goat polyclonal IgG, 200µg/ml; epitope mapping within an internal region of ABCA12 of human origin; recommended for detection of ABCA12 of m, r and h origin
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http://www.scbt.com/datasheet-48435-abca12-n-16-antibody.htm...
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Homeostasis Antibodies :: Page 1
ABCA12 Antibody, 46-786, H, D, E, ABCA12. ABCB1 Antibody, 48-396, H, IHC, ATP- Binding Cassette. ABCC4 Antibody, 51-096, n/a, WB, IHC, ATP-Binding Cassette,
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http://www.prosci-inc.com/shop/catalog1/Homeostasis-Antibodi...
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ABC Antibody / ABC Antibodies
ABCA12 (H-300) Antibody, sc-134467, rabbit IgG, 341-640 (h), WB, IP, ... ABCA12 (N-16) Antibody, sc-48435, goat IgG, Internal (h), WB, IF, ELISA, m, r, h ...
http://www.scbt.com/table-abc.html...
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Primary antibodies | Abcam
ABCA12 antibody. Fast Track. Goat polyclonal. Predicted: Hu. ab80280 · ABCA2 antibody [9A2-51.3]. Flow Cyt, WB. Images. Rat monoclonal. Reacts with: ...
http://www.abcam.com/index.html?pageconfig=catalog_byproduct...
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ABC Antibody / ABC Antibodies
ABCA12 (H-300) 抗体, sc-134467, rabbit IgG, 341-640 (h), WB, IP, IF, ELISA, m, r , h. ABCA12 (N-16) 抗体, sc-48435, goat IgG, Internal (h), WB, IF, ELISA ...
http://www.scbt.com/ja/table-abc.html...
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Peptides :: Page 1
Aak1 Peptide, 4841P, n/a, Bl, (NT) Aak1 peptide. AATF Peptide, 3039P, n/a, Bl, AATF peptide. ABCA12 Peptide, 46-786P, n/a, Bl, ABCA12 peptide ...
http://www.prosci-inc.com/shop/catalog1/Peptides-p-1-c-142.h...
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ABCA12 (N-16) Antibody sc-48435
ABCA12 (N-16) Anticorpo sc-48435 ABCA12 (N-16) Antibody sc-48435.
http://www.scbt.com/it/datasheet-48435-abca12-n-16-antibody....
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