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Recombinant Human ALDH6A1, His-tagged

Cat.No. : ALDH6A1-67H
Product Overview : Recombinant human ALDH6A1, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.
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Description : ALDH6A1 also known as Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial. ALDH6A1 is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. ALDH6A1 deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.
Source : E.coli
Species : Human
Tag : His
Form : Liquid, In Phosphate buffered saline (pH7.4) containing 10% glycerol, 1mM DTT
Molecular Mass : 56.8kDa (525aa)
AA Sequence : MGSSHHHHHH SSGLVPRGSH MGSSSSVPTV KLFIGGKFVE SKSDKWIDIH NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS RQQVLLRYQQ LIKENLKEIA KLITLEQGKT LADAEGDVFR GLQVVEHACS VTSLMMGETM PSITKDMDLY SYRLPLGVCA GIAPFNFPAM IPLWMFPMAM VCGNTFLMKP SERVPGATML LAKLLQDSGA PDGTLNIIHG QHEAVNFICD HPDIKAISFV GSNKAGEYIF ERGSRHGKRV QANMGAKNHG VVMPDANKEN TLNQLVGAAF GAAGQRCMAL STAVLVGEAK KWLPELVEHA KNLRVNAGDQ PGADLGPLIT PQAKERVCNL IDSGTKEGAS ILLDGRKIKV KGYENGNFVG PTIISNVKPN MTCYKEEIFG PVLVVLETET LDEAIQIVNN NPYGNGTAIF TTNGATARKY AHLVDVGQVG VNVPIPVPLP MFSFTGSRSS FRGDTNFYGK QGIQFYTQLK TITSQWKEED ATLSSPAVVM PTMGR
Purity : >85% by SDS - PAGE
Storage : Can be stored at +4C short term (1-2 weeks). For long term storage, aliquot and store at -20C or -70C. Avoid repeated freezing and thawing cycles.
Concentration : 0.25mg/ml (determined by Bradford assay)
Gene Name : ALDH6A1 aldehyde dehydrogenase 6 family, member A1 [ Homo sapiens ]
Official Symbol : ALDH6A1
Synonyms : ALDH6A1; aldehyde dehydrogenase 6 family, member A1; MMSDH; methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; malonate-semialdehyde dehydrogenase; aldehyde dehydrogenase family 6 member A1; mitochondrial acylating methylmalonate-semialdehyde dehydrogenase; MMSADHA; MGC40271;
Gene ID : 4329
mRNA Refseq : NM_005589
Protein Refseq : NP_005580
MIM : 603178
UniProt ID : Q02252
Chromosome Location : 14q24
Pathway : Branched-chain amino acid catabolism, organism-specific biosystem; Inositol phosphate metabolism, organism-specific biosystem; Inositol phosphate metabolism, conserved biosystem; Malonate semialdehyde pathway, propanoyl-CoA =>Acetyl-CoA, organism-specific biosystem; Malonate semialdehyde pathway, propanoyl-CoA => Acetyl-CoA, conserved biosystem;
Function : fatty-acyl-CoA binding; malonate-semialdehyde dehydrogenase (acetylating) activity; methylmalonate-semialdehyde dehydrogenase (acylating) activity; oxidoreductase activity;

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 (12)

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Is there ongoing research on the ALDH6A1 protein and hyperprolinemia type II? 11/14/2022

Research is ongoing to further understand the role of the ALDH6A1 protein in human health and to develop potential therapeutic strategies for hyperprolinemia type II. Studies aim to elucidate the biochemical pathways affected by mutations in the ALDH6A1 gene and explore novel treatment options to alleviate the symptoms of the condition.

Are there any known common variations or polymorphisms in the ALDH6A1 gene? 11/24/2021

Various single nucleotide polymorphisms (SNPs) have been identified in the ALDH6A1 gene. These common genetic variations can affect the regulation, expression, or function of the ALDH6A1 protein to varying degrees. However, the functional significance and clinical implications of most ALDH6A1 gene polymorphisms are still not well understood and require further research.

Are there any other known functions or roles of the ALDH6A1 protein? 09/18/2021

The ALDH6A1 protein is primarily known for its involvement in the metabolism of amino acids, but it may also have additional functions. Some studies suggest that ALDH6A1 may play a role in the detoxification of reactive aldehydes, such as acrolein, which can be produced as a result of oxidative stress or certain chemical exposures.

Besides its role in metabolism, are there any other cellular processes influenced by ALDH6A1 protein? 01/27/2021

While the primary function of the ALDH6A1 protein is related to amino acid metabolism, it indirectly influences other cellular processes. For example, the breakdown of proline, catalyzed by ALDH6A1, provides important building blocks for the synthesis of collagen and other connective tissues. Thus, ALDH6A1 indirectly affects processes related to tissue development and maintenance.

Are there any known pharmacological inhibitors or activators of ALDH6A1? 08/22/2019

Currently, there are no known pharmacological inhibitors or activators specifically targeting ALDH6A1. However, some compounds that target related enzymes involved in amino acid metabolism, such as ALDH2 inhibitors or activators, have been developed. It is possible that such compounds may indirectly affect ALDH6A1 activity, but this would require further research and investigation.

Are there any known genetic disorders associated with ALDH6A1 protein mutations? 10/05/2018

Yes, mutations in the ALDH6A1 gene can result in a rare genetic disorder known as hyperprolinemia type II, also called pyrroline-5-carboxylate synthase (P5CS) deficiency. This condition affects the normal breakdown and metabolism of proline, leading to the accumulation of the amino acid in the body.

Are there any known protein interactions or regulatory mechanisms involving ALDH6A1? 05/17/2018

The specific protein interactions or regulatory mechanisms involving ALDH6A1 are not extensively studied. However, it is known that the ALDH6A1 protein is regulated by various factors, including genetic and epigenetic mechanisms that control its expression levels. Further research is needed to identify specific protein partners or regulatory pathways associated with ALDH6A1.

Can ALDH6A1 protein be targeted for therapeutic intervention? 02/23/2017

Targeting the ALDH6A1 protein directly for therapeutic intervention is currently not a common approach. However, understanding its role in disorders like hyperprolinemia type II may pave the way for developing targeted therapies in the future. Genetic therapies or interventions that enhance the function or expression of ALDH6A1 may be explored in specific cases.

Are there any other genetic disorders associated with mutations in the ALDH6A1 gene? 09/15/2016

Currently, hyperprolinemia type II is the only known genetic disorder associated with ALDH6A1 gene mutations. However, ongoing research may reveal other conditions or diseases that are linked to abnormalities in the ALDH6A1 gene.

Is the ALDH6A1 protein expressed in all tissues and cell types? 07/21/2016

The expression of ALDH6A1 protein is not ubiquitous and varies across tissues and cell types. It is primarily expressed in organs involved in amino acid metabolism, such as the liver and kidneys, as well as in the brain. It is also found in other tissues, including the heart, lungs, and skeletal muscles, albeit at lower levels compared to the liver and kidneys.

Are there any known diseases or conditions associated with dysregulation of ALDH6A1 expression? 07/10/2016

To date, there are no known diseases or conditions that have been directly linked to dysregulation of ALDH6A1 expression. However, ALDH6A1 activity is known to be influenced by various factors, including genetic variations, hormonal regulation, and cellular signaling pathways. Dysregulation of these factors could potentially affect ALDH6A1 expression and activity, leading to metabolic imbalances or other cellular dysfunctions.

Is ALDH6A1 involved in any developmental processes? 01/24/2016

ALDH6A1 is not directly implicated in major developmental processes. However, the breakdown of proline catalyzed by ALDH6A1 contributes to the production of important molecules involved in tissue development and maintenance, such as collagen. Therefore, ALDH6A1 indirectly plays a role in processes related to tissue and organ development.

Customer Reviews (3)

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Reviews
01/28/2021

    Its purity and efficacy make it an ideal choice for precise and accurate analysis, allowing me to generate reliable results.

    12/18/2018

      Its exceptional purity and functionality make it an ideal choice for accurate and precise analysis, ensuring reliable and reproducible results.

      03/11/2017

        By incorporating the ALDH6A1 Protein into their studies, scientists can confidently conduct their research, ushering in groundbreaking discoveries and novel insights within their respective domains.

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