Name: Anti-HMGCL Antibody (CAB8052)
Brand: Assay Genie
SKU: CAB8052
Price: 99 EUR
Availability: InStock

Antibody Name:	HMGCL Rabbit Polyclonal Antibody
Antibody SKU:	CAB8052
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-325 of human HMGCL (NP_000182.2).

Application:	WB IHC
Recommended Dilution:	WB 1:500 - 1:2000 IHC 1:50 - 1:200
Reactivity:	Human, Mouse, Rat
Positive Samples:	U-251MG, SKOV3, BT-474, MCF7, Mouse liver, Mouse kidney

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-325 of human HMGCL (NP_000182.2).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	MAAM RKAL PRRL VGLA SLRA VSTS SMGT LPKR VKIV EVGP RDGL QNEK NIVS TPVK IKLI DMLS EAGL SVIE TTSF VSPK WVPQ MGDH TEVL KGIQ KFPG INYP VLTP NLKG FEAA VAAG AKEV VIFG AASE LFTK KNIN CSIE ESFQ RFDA ILKA AQSA NISV RGYV SCAL GCPY EGKI SPAK VAEV TKKF YSMG CYEI SLGD TIGV GTPG IMKD MLSA VMQE VPLA ALAV HCHD TYGQ ALAN TLMA LQMG VSVV DSSV AGLG GCPY AQGA SGNL ATED LVYM LEGL GIHT GVNL QKLL EAGN FICQ ALNR KTSS KVAQ ATCK L
Gene ID:	3155
Uniprot:	P35914
Cellular Location:	Mitochondrion matrix, Peroxisome
Calculated MW:	20kDa/26kDa/34kDa
Observed MW:	30kDa

Synonyms:	HMGCL, HL
Background:	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.

UniProt Protein Function:	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.
UniProt Protein Details:	Protein type:Carbohydrate Metabolism - butanoate; Mitochondrial; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 4.1.3.4; Lyase; 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; protein tetramerization; response to nutrient Disease: 3-hydroxy-3-methylglutaryl-coa Lyase Deficiency
NCBI Summary:	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 Code:	P35914
NCBI GenInfo Identifier:	24418852
NCBI Gene ID:	3155
NCBI Accession:	P35914.2
UniProt Related Accession:	P35914
Molecular Weight:	Observed: 34 kDaPredicted: 35 kDa
NCBI Full Name:	Hydroxymethylglutaryl-CoA lyase, mitochondrial
NCBI Synonym Full Names:	3-hydroxy-3-methylglutaryl-CoA lyase
NCBI Official Symbol:	HMGCL
NCBI Official Synonym Symbols:	HL
NCBI Protein Information:	hydroxymethylglutaryl-CoA lyase, mitochondrial
UniProt Protein Name:	Hydroxymethylglutaryl-CoA lyase, mitochondrial
UniProt Synonym Protein Names:	3-hydroxy-3-methylglutarate-CoA lyase
UniProt Gene Name:	HMGCL
UniProt Entry Name:	HMGCL_HUMAN

	Western blot analysis of extracts of various cell lines, using HMGCL antibody (CAB8052) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Enhanced Kit (RM00021). Exposure time: 15s.
	Immunohistochemistry of paraffin-embedded rat kidney using HMGCL antibody (CAB8052) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded human colon carcinoma using HMGCL antibody (CAB8052) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded human kidney using HMGCL antibody (CAB8052) at dilution of 1:100 (40x lens).