Human HIBCH cDNA Clone Expression Plasmid – Cat# MBS1269956

HIBCH cDNA Clone – 3-Hydroxyisobutyryl-Coenzyme A Hydrolase (Human)

Name: HIBCH cDNA Clone; Human; MyBioSource
Brand: MyBioSource
SKU: MBS1269956
Price: 235 USD
Availability: InStock
Rating: 5 (10 reviews)

For Research Use Only. Not for use in diagnostic procedures. Catalog #: MBS1269956

MBS1269956 is a cDNA clone targeting HIBCH. More details

$235 / 0.01 mg Plasmid + 0.2 mL Glycerol-Stock +1 FREE 8GB USB

Product Documentation

Sample Manual Insert View PDF

Testing Data View PDF

Certificate of Analysis (COA) View PDF

QC Report View PDF

Material Safety Data Sheet View PDF

Technical Datasheet View PDF

Protocol View PDF

Product Overview

Online Datasheet in PDF

Product Name

HIBCH, cDNA Clone

Full Product Name

HIBCH cDNA Clone

Product Gene Name

HIBCH cdna clone

Sequence

atgtggaggc tcatgtcgag gtttaatgca ttcaaaagga ctaataccat actgcaccat ttgagaatgt ccaagcacac agatgcagca gaagaggtgc tattggaaaa aaaaggttgc gcgggagtca taacactaaa cagaccaaag ttcctcaatg cactgactct taatatgatt cggcagattt atccacagct aaagaagtgg gaacaagatc ctgaaacttt cctgatcatt ataaagggag caggaggaaa ggctttctgt gccgggggtg atatcagagt gatctcggaa gctgaaaagg caaaacagaa gatagctcca gttttcttca gagaagaata tatgctgaat aatgctgttg gttcttgcca gaaaccttat gttgcactta ttcatggaat tacaatgggt gggggagttg gtctctcagt ccatgggcaa tttcgagtgg ctacagaaaa gtgtcttttt gctatgccag aaactgcaat aggactgttc cctgatgtgg gtggaggtta tttcttgcca cgactccaag gaaaacttgg ttacttcctt gcattaacag gattcagact aaaaggaaga gatgtgtaca gagcaggaat tgctacacac tttgtagatt ctgaaaagtt ggccatgtta gaggaagatt tgttagcctt gaaatctcct tcaaaagaaa atattgcatc tgtcttagaa aattaccata cagagtctaa gattgatcga gacaagtctt ttatacttga ggaacacatg gacaaaataa acagttgttt ttcagccaat actgtggaag aaattattga aaacttacag caagatggtt catcttttgc cctagagcaa ttgaaggtaa ttaataaaat gtctccaaca tctctaaaga tcacactaag gcaactcatg gaggggtctt caaagacctt gcaagaagta ctaactatgg agtatcggct aagtcaagct tgtatgtttt aa

Molecular Weight

38,012 Da

OMIM

250620

Vector

pUC

Clone Sequence Report

Provided with product shipment

ISO Certification

Manufactured in an ISO 9001:2015 Certified Laboratory.

Other Notes

Small volumes of HIBCH cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Additional Details

NCBI/Uniprot data below describe general gene information for HIBCH. It may not necessarily be applicable to this product.

NCBI GI #

13528776

NCBI GeneID

26275

NCBI Accession #

BC005190

UniProt Secondary Accession #

Q53GA8; Q53GF2; Q53RF7; Q53TC6; Q92931; Q9BS94; D3DPI4

UniProt Related Accession #

Q6NVY1

NCBI Official Full Name

Homo sapiens 3-hydroxyisobutyryl-Coenzyme A hydrolase, mRNA

NCBI Official Synonym Full Names

3-hydroxyisobutyryl-CoA hydrolase

NCBI Official Symbol

HIBCH

NCBI Official Synonym Symbols

HIBYLCOAH

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 Synonym Gene Names

HIB-CoA hydrolase; HIBYL-CoA-H

UniProt Entry Name

HIBCH_HUMAN

NCBI Protein Information

3-hydroxyisobutyryl-CoA hydrolase, mitochondrial

NCBI Summary for HIBCH

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 Comments for HIBCH

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.

Protein type: EC 3.1.2.4; Carbohydrate Metabolism - propanoate; Mitochondrial; Hydrolase; Other Amino Acids Metabolism - beta-alanine; Amino Acid Metabolism - valine, leucine and isoleucine degradation

Chromosomal Location of Human Ortholog: 2q32.2

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function: 3-hydroxyisobutyryl-CoA hydrolase activity

Biological Process: branched chain family amino acid catabolic process; fatty acid beta-oxidation

Disease: Beta-hydroxyisobutyryl Coa Deacylase Deficiency

Research Articles on HIBCH

1. findings demonstrated a novel homozygous pathogenic missense mutation c.950G <A; p.Gly317Glu in the HIBCH gene, which segregated with infantile-onset neurodegeneration within a Pakistani family; HIBCH deficiency, a disorder of valine catabolism, is a novel cause of the multiple mitochondrial dysfunctions syndrome

Precautions

All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.

Disclaimer

While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.

Product Note

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual, it is intended to serve as an example only. Please refer to the instructions For Use provided with the assay kit for precise details.

Product PubMed Publications

Pathways associated with HIBCH cdna clone

Products by Pathway	Pathway Diagram
Branched-chain Amino Acid Catabolism Pathway antibodies	Branched-chain Amino Acid Catabolism Pathway Diagram
Malonate Semialdehyde Pathway, Propanoyl-CoA => Acetyl-CoA antibodies	Malonate Semialdehyde Pathway, Propanoyl-CoA => Acetyl-CoA Diagram
Malonate Semialdehyde Pathway, Propanoyl-CoA => Acetyl-CoA antibodies	Malonate Semialdehyde Pathway, Propanoyl-CoA => Acetyl-CoA Diagram
Metabolism Pathway antibodies	Metabolism Pathway Diagram
Metabolism Of Amino Acids And Derivatives Pathway antibodies	Metabolism Of Amino Acids And Derivatives Pathway Diagram
Propanoate Metabolism Pathway antibodies	Propanoate Metabolism Pathway Diagram
Propanoate Metabolism Pathway antibodies	Propanoate Metabolism Pathway Diagram
Valine, Leucine And Isoleucine Degradation Pathway antibodies	Valine, Leucine And Isoleucine Degradation Pathway Diagram
Valine, Leucine And Isoleucine Degradation Pathway antibodies	Valine, Leucine And Isoleucine Degradation Pathway Diagram
Beta-Alanine Metabolism Pathway antibodies	Beta-Alanine Metabolism Pathway Diagram

Diseases associated with HIBCH cdna clone

Disease Name	Pubmed Publications
Mental Disorders Antibodies	>1 publications with HIBCH and Mental Disorders
Hypertrophy Antibodies	>1 publications with HIBCH and Hypertrophy
Cardiovascular Diseases Antibodies	>1 publications with HIBCH and Cardiovascular Diseases

Organs/Tissues associated with HIBCH cdna clone

Organ/Tissue Name	Pubmed Publications
Nerve Antibodies	>2 publications with HIBCH and Nerve
Brain Antibodies	>2 publications with HIBCH and Brain
Ganglia Antibodies	>1 publications with HIBCH and Ganglia
Muscle Antibodies	>1 publications with HIBCH and Muscle
Blood Antibodies	>1 publications with HIBCH and Blood
Skin Antibodies	>1 publications with HIBCH and Skin