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ABCD1
Gene Information from Publications |
| Publication Link |
Summary of findings |
| 17504626 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17662307 |
This study examined a patient with Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene. |
| 17761426 |
ALDP-encoding mRNA is most abundant in tissues with high energy requirements such as heart, muscle, liver, and the renal and endocrine systems. ALDP selectively occurs in specific cell types of the brain. |
| 17542813 |
mutant ALDPs, which have a mutation in COOH-terminal half of ALDP, including S606L, R617H, & H667D, were degraded by proteasomes after dimerization. region between transmembrane domain 2 and 3 is important for the targeting of ALDP to the peroxisome. |
| 15781447 |
analysis of the PEX19-binding site of human adrenoleukodystrophy protein |
| 12624723 |
Six different missense mutations in ALD were identified in seven Japanese families. |
| 12175782 |
Eight novel mutations are described. |
| 14767898 |
There were no hot spot mutations in ABCD1 gene in China, mutations in gene were found over 70% of patients with ALD and the ABCD1 gene mutations identified revealed no obvious correlation between the type of mutation and phenotype. |
| 14556192 |
For the first time, mutations in ABCD1 are identified in Chinese adrenoleukodystrophy patients in the mainland of China. |
| 12530690 |
Mutations are heterogeneously distributed over functional domains of ALDP and alter peroxisomal transport function. | →View more information from publications. |
Interacting gene products |
| Interaction Type |
Gene 1 |
Gene 2 |
Interaction description |
Complex |
Publication Link |
| BIND | ATP-binding cassette, sub-family D, member 1 | ATP-binding cassette, sub-family D, member 1 | ALDP homodimerizes via the C-terminal cytosolic domain. | - | Pubmed |
| HPRD | ATP-binding cassette, sub-family D, member 1 | peroxisomal biogenesis factor 19 | - | - | Pubmed |
| HPRD | ATP-binding cassette, sub-family D, member 1 | peroxisomal biogenesis factor 19 | - | - | Pubmed |
| BIND | ATP-binding cassette, sub-family D, member 1 | peroxisomal biogenesis factor 19 | ALDP interacts with both farnesylated and mutant farnesyl-deficient PEX19. | - | Pubmed |
| HPRD | ATP-binding cassette, sub-family D, member 1 | ATP-binding cassette, sub-family D, member 3 isoform a | - | - | Pubmed |
| BIND | ATP-binding cassette, sub-family D, member 1 | ATP-binding cassette, sub-family D, member 3 isoform a | Heterodimerization of ALDP with PMP70. | - | Pubmed |
| HPRD | ATP-binding cassette, sub-family D, member 1 | ATP-binding cassette, sub-family D, member 2 | - | - | Pubmed |
| HPRD | ATP-binding cassette, sub-family D, member 1 | ATP-binding cassette, sub-family D, member 2 | - | - | Pubmed |
| BIND | ATP-binding cassette, sub-family D, member 1 | ATP-binding cassette, sub-family D, member 2 | ALDP interacts with ALDRP. This interaction was modeled on a demonstrated interaction between human ALDP and mouse ALDRP.. | - | Pubmed |
Recent Publications on ABCD1: |  |
Induction of the adrenoleukodystrophy-related gene (ABCD2) by thyromimetics.
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by... | 27th October, 2009
| INSERM, U866, Dijon, F-21000, France.
| J Steroid Biochem Mol Biol. 2009 Aug;116(1-2):37-43. Epub 2009 May 3.
DOI Direct Link |
Peroxisomal and mitochondrial status of two murine oligodendrocytic cell lines (158N, 158JP): potential models for the study of peroxisomal disorders associated with dysmyelination processes.
In some neurodegenerative disorders (leukodystrophies) characterized by... | 10th October, 2009
| Centre de Recherche INSERM, Dijon, France.
| J Neurochem. 2009 Oct;111(1):119-31. Epub 2009 Jul 29.
DOI Direct Link |
Three novel variants in X-linked adrenoleukodystrophy.
X-linked adrenoleukodystrophy is an inherited neurological disorder caused... | 7th October, 2009
| Genetics Division, Department of Pediatrics, All India Institute of
| J Child Neurol. 2009 Jul;24(7):857-60. Epub 2009 Apr 30.
DOI Direct Link |
Downregulation of ABCD1 in human renal cell carcinoma.
Renal cell carcinoma (RCC) is the most common malignant tumor of the... | 30th September, 2009
| Institute of Biochemistry, Kaohsiung Medical University, Kaohsiung,
| Int J Biol Markers. 2009 Jul-Sep;24(3):171-8.
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Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
Because melanomas are intrinsically resistant to conventional radiotherapy... | 9th September, 2009
| Department of Biochemistry, VP Chest Institute, Delhi, India.
| Hum Genet. 2009 Aug;126(2):344.
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→View more research publications. |
ABCD1 results (if any) from reagent suppliers | 
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ABCD1 Antibody ABCD1
ABCD1 antibody was raised against a synthetic peptide of ABCD1.,
http://www.prosci-inc.com/shop/catalog1/ABCD1-Antibody-p-261...
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ABCD1 antibody (ab77364) | Abcam
Goat polyclonal to ABCD1. ABCD1 belongs to the ALD subfamily, of the superfamily of ATP-binding cassette (ABC) transporters and is involved in peroxisomal ...
http://www.abcam.com/ABCD1-antibody-ab77364.html...
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ABCD1 (H-145) Antibody sc-20971
ABCD1 shRNA (h) Lentiviral Particles, sc-41143-V, 200 µl ... ABCD1 (H-145): sc- 20971. Western blot analysis of ABCD1 expression in HeLa whole cell lysate. ...
http://www.scbt.com/datasheet-20971-abcd1-h-145-antibody.htm...
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Cancer Antibodies :: Page 1
ABCB9 Antibody, 45-180, H, E, IHC, ABCB9 / TAPL. ABCC4 Antibody, 45-181, H, M, R , E, WB, IHC, ABCC4 / MRP4. ABCD1 Antibody, 45-182, H, E, WB, ABCD1 ...
http://www.prosci-inc.com/shop/catalog1/Cancer-Antibodies-p-...
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ABCD1 (A-15) Antibody sc-31875
goat polyclonal IgG, 200 µg/ml; epitope mapping within an internal region of ABCD1 of human origin; recommended for detection of ABCD1 of m, r and h origin
...
http://www.scbt.com/datasheet-31875-abcd1-a-15-antibody.html...
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Primary antibodies | Abcam
ABCD1 antibody. WB, ELISA. Images. Goat polyclonal. Reacts with: ... ABCD1 antibody [1AL-2B4]. WB, ELISA, ICC/IF, IHC-Fr. Mouse monoclonal. Reacts with:
...
http://www.abcam.com/index.html?pageconfig=catalog_byproduct...
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ABC Antibody / ABC Antibodies
ABCD1 (A-15) Antibody, sc-31875, goat IgG, internal (h), WB, IF, ELISA, m, r, h. ABCD1 (C-20) Antibody, sc-21378, goat IgG, C-terminus (h), WB, IF, ELISA ...
http://www.scbt.com/table-abc.html...
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