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Recombinant Human ALDH7A1 protein, His-tagged

Cat.No. : ALDH7A1-868H
Product Overview : Recombinant Human ALDH7A1 protein(P49419-2)(Ser2-Gln511), fused with His tag, was expressed in E. coli.
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Source : E. coli
Species : Human
Tag : His
Form : Lyophilized from sterile 50mM Tris, 500mM NaCl, 20% glycerol, pH 8.0Please contact us for any concerns or special requirements. Normally 5 % - 8 % trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
Molecular Mass : The recombinant human ALDH7A1 consisting of 517 amino acids and migrates as an approximately 56 kDa band in SDS-PAGE under reducing conditions as predicted.
Protein Length : Ser2-Gln511
Purity : > 93 % as determined by SDS-PAGE
Storage : Samples are stable for up to twelve months from date of receipt at -20°C to -80°C. Store it under sterile conditions at -20°C to -80°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
Reconstitution : It is recommended that sterile water be added to the vial to prepare a stock solution of 0.2 ug/ul. Centrifuge the vial at 4°C before opening to recover the entire contents.
Gene Name : ALDH7A1 aldehyde dehydrogenase 7 family, member A1 [ Homo sapiens ]
Official Symbol : ALDH7A1
Synonyms : ALDH7A1; aldehyde dehydrogenase 7 family, member A1; ATQ1; alpha-aminoadipic semialdehyde dehydrogenase; 26g turgor protein homolog; alpha AASA dehydrogenase; alpha aminoadipic semialdehyde dehydrogenase; antiquitin 1; delta1 piperideine 6 carboxylate dehydrogenease; EPD; P6c dehydrogenase; PDE; antiquitin-1; alpha-AASA dehydrogenase; betaine aldehyde dehydrogenase; delta1-piperideine-6-carboxylate dehydrogenase; FLJ11738; FLJ92814;
Gene ID : 501
mRNA Refseq : NM_001182
Protein Refseq : NP_001173
MIM : 107323
UniProt ID : P49419

For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.

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Q&As (14)

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Can ALDH7A1 deficiency be diagnosed through genetic testing? 04/23/2023

Yes, ALDH7A1 deficiency can be diagnosed through genetic testing. Genetic testing can identify mutations in the ALDH7A1 gene, confirming the diagnosis of this condition. It is typically recommended to perform genetic testing for individuals with clinical signs and symptoms consistent with pyridoxine-dependent epilepsy.

Are there any ongoing research efforts related to ALDH7A1 protein? 06/10/2022

Yes, researchers continue to investigate ALDH7A1 protein and its role in lysine metabolism, pyridoxine-dependent epilepsy, and other related disorders. Some studies focus on understanding the molecular mechanisms underlying ALDH7A1 deficiency and developing potential therapies for affected individuals.

Are there any known interactions of ALDH7A1 protein with other molecules or proteins? 10/15/2021

ALDH7A1 protein is known to interact with certain proteins, such as DPC4/SMAD4 and SP1 transcription factor. These interactions may play a role in the regulation of gene expression and cellular processes.

Besides its role in lysine degradation, does ALDH7A1 protein have any other functions? 10/02/2021

ALDH7A1 protein has also been reported to be involved in the metabolism of pipecolic acid, which is derived from lysine and is important for the biosynthesis of neurotransmitters and the regulation of fatty acid metabolism.

Are there any specific dietary recommendations for individuals with ALDH7A1 deficiency? 04/03/2019

There are no specific dietary recommendations solely for ALDH7A1 deficiency. However, as with any seizure disorder, it is generally recommended for individuals to follow a well-balanced diet and avoid triggers that may worsen seizures, such as excessive caffeine or alcohol consumption.

Which pathway does ALDH7A1 protein participate in? 06/29/2018

ALDH7A1 protein participates in the lysine degradation pathway.

Are there any treatments available for pyridoxine-dependent epilepsy caused by ALDH7A1 deficiency? 03/29/2018

Yes, the main treatment for pyridoxine-dependent epilepsy caused by ALDH7A1 deficiency is the administration of pyridoxine (vitamin B6) supplements. This treatment helps to bypass the metabolic pathway that is disrupted due to the ALDH7A1 deficiency and can effectively control seizures in most individuals with this condition. In some cases, additional medications may be prescribed to further manage the seizures.

How is the ALDH7A1 protein encoded? 02/04/2018

The ALDH7A1 gene, which encodes the ALDH7A1 protein, is located on chromosome 5q31.3. Mutations in this gene can lead to the deficiency of ALDH7A1 protein, causing pyridoxine-dependent epilepsy.

How is ALDH7A1 protein regulated in the body? 01/25/2018

The regulation of ALDH7A1 protein is not fully understood. However, studies suggest that its expression can be influenced by several factors, including hormonal signals, nutrient availability, and genetic variations.

Is ALDH7A1 deficiency a progressive disorder? 10/16/2017

ALDH7A1 deficiency itself is not considered a progressive disorder. However, if left untreated, the seizures associated with this condition can lead to developmental delays and intellectual disabilities. With early diagnosis and appropriate treatment, the prognosis for individuals with ALDH7A1 deficiency can be improved.

Is the ALDH7A1 protein present in all tissues of the body? 04/24/2017

Yes, the ALDH7A1 protein is found in various tissues, including the brain, liver, kidney, and other organs. However, its expression levels may vary among tissues.

Are there any support groups or resources available for individuals and families affected by ALDH7A1 deficiency? 11/27/2016

Yes, there are support groups and resources available for individuals and families affected by ALDH7A1 deficiency. Organizations such as the Pyridoxine-Dependent Epilepsy Family Association provide support, information, and resources for affected individuals and their families. Medical professionals can also provide guidance and connect individuals with the relevant support networks.

Are there any other disorders associated with mutations in the ALDH7A1 gene? 10/24/2016

In addition to pyridoxine-dependent epilepsy, mutations in the ALDH7A1 gene can also cause a rare inherited disorder known as hyperlysinemia type 2. This condition is characterized by high levels of lysine in the blood, urine, and tissues.

What happens when there is a deficiency of ALDH7A1 protein? 06/01/2016

Deficiency of ALDH7A1 protein results in a rare metabolic disorder called pyridoxine-dependent epilepsy (PDE). This disorder is characterized by seizures that are unresponsive to conventional anti-seizure medications but can be controlled with the administration of vitamin B6 (pyridoxine) or its active form pyridoxal-5'-phosphate.

Customer Reviews (3)

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Reviews
02/21/2019

    I highly recommend the ALDH7A1 Protein to fellow researchers seeking a high-quality protein that not only meets their experimental requirements but is also accompanied by exceptional technical support.

    10/26/2018

      The ALDH7A1 Protein's consistent stability and robust performance make it an indispensable tool for studying its multifaceted roles and mechanisms within vital biochemical pathways and cellular processes.

      01/18/2016

        What truly distinguishes the ALDH7A1 Protein is the unparalleled technical support provided by the manufacturer.

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