3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase Recombinant Protein | HMGCL recombinant protein

Recombinant Human 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase

Cat. Num. AAA144634

• Gene Names: HMGCL; HL
• Purity: Greater than 85.0% as determined by SDS-PAGE.
• Synonyms: 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase; Recombinant Human 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase; HMGCL Human; 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase Human Recombinant; Hydroxymethylglutaryl-CoA lyase mitochondrial; HL; HMG-CoA lyase; 3-hydroxy-3-methylglutarate-CoA lyase; HMGCL; HMGCL recombinant protein

• Host: E Coli
• Purity/Purification: Greater than 85.0% as determined by SDS-PAGE.
• Form/Format: The HMGCL solution (1mg/ml) contains 20mM Tris-HCl buffer (pH8.0), 10% glycerol and 0.4M Urea.; Sterile Filtered colorless solution.
• Sequence: MGSSHHHHHH SSGLVPRGSH MGSHMTLPKR VKIVEVGPRD GLQNEKNIVS TPVKIKLIDM LSEAGLSVIE TTSFVSPKWV PQMGDHTEVL KGIQKFPGIN YPVLTPNLKG FEAAVAAGAK EVVIFGAASE LFTKKNINCS IEESFQRFDA ILKAAQSANI SVRGYVSCAL GCPYEGKISP AKVAEVTKKF YSMGCYEISL GDTIGVGTPG IMKDMLSAVM QEVPLAALAV HCHDTYGQAL ANTLMALQMG VSVVDSSVAG LGGCPYAQGA SGNLATEDLV YMLEGLGIHT GVNLQKLLEA GNFICQALNR KTSSKVAQAT CKL.
• Sequence Length: 325

• Preparation and Storage: Store at 4 degree C if entire vial will be used within 2-4 weeks. Store, frozen at -20 degree 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.

Related Product Information for HMGCL recombinant protein

Description: HMGCL Human Recombinant produced in E Coli is a single, non-glycosylated polypeptide chain containing 323 amino acids (28-325) and having a molecular mass of 34.2kDa.HMGCL is fused to a 25 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Introduction: Hydroxymethylglutaryl-CoA lyase (HMGCL) is a mitochondrial matrix protein which is a member of the HMG-CoA lyase family. HMGCL is a homodimer and participates in leucine catabolism and ketogenesis, the hepatic synthesis of ketone bodies which, during fasting, provides a major source of energy for the heart, brain and kidney. More precisely, HMGCL catalyzes the final step of these processes, the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetic acid and acetyl-CoA.

Product Categories/Family for HMGCL recombinant protein

Enzymes; Lyase

NCBI and Uniprot Product Information

• NCBI GI #: 62198232
• NCBI GeneID: 3155
• NCBI Accession #: NP_000182.2
• NCBI GenBank Nucleotide #: NM_000191.2
• UniProt Accession #: P35914; Q6IBC0; Q96FP8; B4DUP4; B7UCC6; D3Y5K7
• Molecular Weight: 20,222 Da
• NCBI Official Full Name: hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1
• NCBI Official Synonym Full Names: 3-hydroxymethyl-3-methylglutaryl-CoA lyase
• NCBI Official Symbol: HMGCL
• NCBI Official Synonym Symbols: HL
• NCBI Protein Information: hydroxymethylglutaryl-CoA lyase, mitochondrial; 3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; HMG-CoA lyase; hydroxymethylglutaricaciduria; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
• UniProt Protein Name: Hydroxymethylglutaryl-CoA lyase, mitochondrial
• Protein Family: 3-hydroxymethyl-3-methylglutaryl-CoA lyase
• UniProt Gene Name: HMGCL
• UniProt Synonym Gene Names: HL; HMG-CoA lyase
• UniProt Entry Name: HMGCL_HUMAN

NCBI Description

The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Uniprot Description

HMGCL: Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Defects in HMGCL are the cause of 3-hydroxy-3- methylglutaryl-CoA lyase deficiency (HMGCLD); also known as hydroxymethylglutaricaciduria or HL deficiency. An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases. Belongs to the HMG-CoA lyase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 4.1.3.4; Carbohydrate Metabolism - butanoate; Lyase; Mitochondrial; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Lipid Metabolism - synthesis and degradation of ketone bodies

Chromosomal Location of Human Ortholog: 1p36.1-p35

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane; peroxisome

Molecular Function: hydroxymethylglutaryl-CoA lyase activity; protein homodimerization activity; acyl-CoA binding; carboxylic acid binding; manganese ion binding; metal ion binding; magnesium ion binding; receptor binding

Biological Process: response to starvation; mitochondrion organization and biogenesis; leucine catabolic process; acyl-CoA metabolic process; ketone body biosynthetic process; ketone body metabolic process; cellular lipid metabolic process; liver development; response to nutrient; protein tetramerization

Disease: 3-hydroxy-3-methylglutaryl-coa Lyase Deficiency