Name: Anti-HIBCH Antibody (CAB17129)
Brand: Cell Biology Antibodies 13
SKU: CAB17129
Availability: OutOfStock

Antibody Name:	Anti-HIBCH Antibody
Antibody SKU:	CAB17129
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 33-330 of human HIBCH (NP_055177.2).

Application:	WB IF
Recommended Dilution:	WB 1:500 - 1:2000 IF 1:50 - 1:100
Reactivity:	Human, Mouse, Rat
Positive Samples:	U-87MG, HepG2, Mouse liver, Mouse kidney, Mouse heart

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 33-330 of human HIBCH (NP_055177.2).
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:	DAAE EVLL EKKG CTGV ITLN RPKF LNAL TLNM IRQI YPQL KKWE QDPE TFLI IIKG AGGK AFCA GGDI RVIS EAEK AKQK IAPV FFRE EYML NNAV GSCQ KPYV ALIH GITM GGGV GLSV HGQF RVAT EKCL FAMP ETAI GLFP DVGG GYFL PRLQ GKLG YFLA LTGF RLKG RDVY RAGI ATHF VDSE KLAM LEED LLAL KSPS KENI ASVL ENYH TESK IDRD KSFI LEEH MDKI NSCF SANT VEEI IENL QQDG SSFA LEQL KVIN KMSP TSLK ITLR QLME GSSK TLQE VLTM EY
Gene ID:	26275
Uniprot:	Q6NVY1
Cellular Location:
Calculated MW:
Observed MW:	40kDa

Western blot - HIBCH Rabbit pAb (CAB17129)

Synonyms:	HIBCH, HIBYLCOAH
Background:	This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.

UniProt Protein Function:	HIBCH: Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA. Defects in HIBCH are the cause of HIBCH deficiency (HIBCHD); also known as deficiency of beta- hydroxyisobutyryl CoA deacylase or methacrylic aciduria. The enzyme defect results in accumulation of methacrylyl-CoA, a highly reactive compound, which readily undergoes addition reactions with free sulfhydryl groups. Affected individuals showed delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during first stages of life. Belongs to the enoyl-CoA hydratase/isomerase family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:Other Amino Acids Metabolism - beta-alanine; Mitochondrial; EC 3.1.2.4; Carbohydrate Metabolism - propanoate; Hydrolase; Amino Acid Metabolism - valine, leucine and isoleucine degradation Chromosomal Location of Human Ortholog: 2q32.2 Cellular Component: mitochondrial matrix Molecular Function:3-hydroxyisobutyryl-CoA hydrolase activity Biological Process: branched chain family amino acid catabolic process Disease: Beta-hydroxyisobutyryl Coa Deacylase Deficiency
NCBI Summary:	This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
UniProt Code:	Q6NVY1
NCBI GenInfo Identifier:	146324905
NCBI Gene ID:	26275
NCBI Accession:	Q6NVY1.2
UniProt Secondary Accession:	Q6NVY1,Q53GA8, Q53GF2, Q53RF7, Q53TC6, Q92931, Q9BS94 D3DPI4,
UniProt Related Accession:	Q6NVY1
Molecular Weight:	38,012 Da
NCBI Full Name:	3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
NCBI Synonym Full Names:	3-hydroxyisobutyryl-CoA hydrolase
NCBI Official Symbol:	HIBCH
NCBI Official Synonym Symbols:	HIBYLCOAH
NCBI Protein Information:	3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
UniProt Protein Name:	3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
UniProt Synonym Protein Names:	3-hydroxyisobutyryl-coenzyme A hydrolase; HIB-CoA hydrolase; HIBYL-CoA-H
Protein Family:	3-hydroxyisobutyryl-CoA hydrolase
UniProt Gene Name:	HIBCH
UniProt Entry Name:	HIBCH_HUMAN