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Validated All-in-One™ qPCR Primer for ABCD1(NM_000033.3) Search again
Product ID:
HQP005065
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ABC42, ALD, ALDP, AMN
Gene Description:
ATP binding cassette subfamily D member 1
Target Gene Accession:
NM_000033.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq].
Gene References into function
- ALDP and ALDRP interact via their carboxy termini. ALDP mutations P484R and R591Q abolish this interaction. This interaction was demonstrated using human ALDP and murine ALDRP.
- ALDP homodimerizes via the C-terminal cytosolic domain [361-745]. Residues Pro-484 and Arg-591 are important for the interaction.
- ALDP interacts with PMP70. This interaction occurs via the C-terminus of ALDP [361-745] and the C-terminus of PMP70 [338-659]. ALDP mutations P484R and R591Q abolish the interaction.
- Fifteen new mutations are described in Adrenoleukodystrophy patients
- mutational analysis in patients with X-linked adrenoleukodystrophy
- Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
- Eight novel mutations are described.
- ALDP facilitates the interaction between peroxisomes and mitochondria, resulting, when ALDP is deficient in X-ALD, in increased VLCFA accumulation
- Mutations are heterogeneously distributed over functional domains of ALDP and alter peroxisomal transport function.
- The splice mutation in 5' end of intron 5 leading to abnormal splice in exon 5 and exon 6 appears to be one of the causes of X-linked recessive adrenoleukodystrophy.
- Six different missense mutations in ALD were identified in seven Japanese families.
- For the first time, mutations in ABCD1 are identified in Chinese adrenoleukodystrophy patients in the mainland of China.
- 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.
- ABCA1-independent but cytoskeleton-dependent cholesterol removal pathway may help to prevent early atherosclerosis in Tangier disease.
- Accumulation of very long-chain fatty acids does not affect mitochondrial function in ABCD1 protein deficiency.
- analysis of the PEX19-binding site of human adrenoleukodystrophy protein
- Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. We report an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future.
- over half of the mutations (19/34) were located in exon 1 and exon 6, suggesting possible hot exons
- Data show that fetus 1 had R617G mutation on his ABCD1 gene and he was an adrenoleukodystrophy hemizygote. Fetus 2 had no P534R mutation on his ABCD1 gene and he was a normal hemizygote.
- ABCD1 gene mutations were found in 4 cases of X-linked adrenoleukodystrophy with high VLCFAs levels of amniocytes, no mutation was found in other 4 cases with normal VLCFAs levels of amniocytes.
- 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.
- 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.
- 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.
- ALDP deficiency enhances metabolic distress in oligodendrocytes that are compromised a priori by destabilised myelin. The age at which this occurs precedes the onset of axonal degeneration in Abcd1-deficient mice.
- ABCD1 mutation in the ethiopathogenesis of X-linked adrenoleukodystrophy. Its defect causes accumulation of the very long chain fatty acids in the tissues of the central and peripheral nervous system, adrenal glands and in the body fluids.
- This study concluded that de novo mutations occurred in this gene resulting in the disease.