Enzymes Recombinant Proteins

Human ALDH6A1 Recombinant Protein (RPPB1390)

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SKU:
RPPB1390
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q02252
Research Area:
Enzymes

Description

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Product Name:Human ALDH6A1 Recombinant Protein
Product Code:RPPB1390
Size:10µg
Species:Human
Target:ALDH6A1
Synonyms:MMSADHA, MMSDH , Aldehyde Dehydrogenase 6 Family, MemberA1, Methylmalonate-Semialdehyde Dehydrogenase [Acylating], Mitochondrial, MitochondrialAcylating Methylmalonate-Semialdehyde Dehydrogenase, Malonate-SemialdehydeDehydrogenase [Acylating], Aldehyde Dehydrogenase Family 6 Member A1, Malonate-SemialdehydeDehydrogenase, EC 1.2.1.18, EC 1.2.1.27.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:ALDH6A1protein solution (0.25mg/ml) containing Phosphate buffered saline (pH7.4), 10%glycerol and 1mM DTT.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 85.0% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHHSSGLVPRGSH MGSSSSVPTVKLFIGGKFVE SKSDKWIDIH NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS RQQVLLRYQQLIKENLKEIA KLITLEQGKT LADAEGDVFR GLQVVEHACS VTSLMMGETM PSITKDMDLY SYRLPLGVCAGIAPFNFPAM IPLWMFPMAM VCGNTFLMKP SERVPGATML LAKLLQDSGA PDGTLNIIHG QHEAVNFICDHPDIKAISFV GSNKAGEYIF ERGSRHGKRV QANMGAKNHG VVMPDANKEN TLNQLVGAAF GAAGQRCMALSTAVLVGEAK KWLPELVEHA KNLRVNAGDQ PGADLGPLIT PQAKERVCNL IDSGTKEGAS ILLDGRKIKVKGYENGNFVG PTIISNVKPN MTCYKEEIFG PVLVVLETET LDEAIQIVNN NPYGNGTAIF TTNGATARKY AHLVDVGQVGVNVPIPVPLP MFSFTGSRSS FRGDTNFYGK QGIQFYTQLK TITSQWKEED ATLSSPAVVM PTMGR

ALDH6A1or Methylmalonate-semialdehydedehydrogenase [acylating], mitochondrial is a mitochondrial methylmalonatesemialdehyde dehydrogenase. ALDH6A1 participates in the valine and pyrimidinecatabolic pathways. ALDH6A1catalyzes the irreversible oxidative decarboxylation of malonate, propionyl-CoAand methylmalonate semialdehydes to acetyl. ALDH6A1 deficiency is distinguishedby high levels of beta-alanine, 3-hydroxypropionic acid, and the two isomers of3-amino and 3-hydroxyisobutyric acids in urine organic acids.

ALDH6A1 Human Recombinant produced in E.Coli is a single,non-glycosylated polypeptide chain containing 525 amino acids (34-535 a.a) andhaving a molecular mass of 56.8kDa. ALDH6A1 is fused to a 23 amino acid His-tag at N-terminus& purified by proprietary chromatographic techniques.

UniProt Protein Function:ALDH6A1: Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA. Defects in ALDH6A1 are the cause of methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD). This is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Belongs to the aldehyde dehydrogenase family.
UniProt Protein Details:

Protein type:Carbohydrate Metabolism - inositol phosphate; EC 1.2.1.27; EC 1.2.1.18; Mitochondrial; Oxidoreductase; Carbohydrate Metabolism - propanoate; Amino Acid Metabolism - valine, leucine and isoleucine degradation

Chromosomal Location of Human Ortholog: 14q24.3

Cellular Component: nucleoplasm; mitochondrion; mitochondrial matrix

Molecular Function:aldehyde dehydrogenase (NAD) activity; acyl-CoA binding; methylmalonate-semialdehyde dehydrogenase (acylating) activity; malonate-semialdehyde dehydrogenase (acetylating) activity

Biological Process: valine catabolic process; thymine metabolic process; brown fat cell differentiation; thymine catabolic process; valine metabolic process; branched chain family amino acid catabolic process

Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency

NCBI Summary:This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein 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. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
UniProt Code:Q02252
NCBI GenInfo Identifier:12643424
NCBI Gene ID:4329
NCBI Accession:Q02252.2
UniProt Secondary Accession:Q02252,Q9UKM8, B2R609, B4DFS8, J3KNU8,
UniProt Related Accession:Q02252
Molecular Weight:535
NCBI Full Name:Methylmalonate-semialdehyde dehydrogenase
NCBI Synonym Full Names:aldehyde dehydrogenase 6 family, member A1
NCBI Official Symbol:ALDH6A1��
NCBI Official Synonym Symbols:MMSDH; MMSADHA��
NCBI Protein Information:methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; mitochondrial acylating methylmalonate-semialdehyde dehydrogenase
UniProt Protein Name:Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
UniProt Synonym Protein Names:Aldehyde dehydrogenase family 6 member A1
UniProt Gene Name:ALDH6A1��
UniProt Entry Name:MMSA_HUMAN
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