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] See more...

Aliases for HIBCH Gene

Aliases for HIBCH Gene

  • 3-Hydroxyisobutyryl-CoA Hydrolase 2 3 5
  • 3-Hydroxyisobutyryl-Coenzyme A Hydrolase 2 3 4
  • 3-Hydroxyisobutyryl-CoA Hydrolase, Mitochondrial 3 4
  • HIB-CoA Hydrolase 3 4
  • HIBYL-CoA-H 3 4
  • EC 3.1.2.4 4 51
  • Testicular Tissue Protein Li 86 3
  • HIBYLCOAH 3
  • HIBCH 5

External Ids for HIBCH Gene

Previous GeneCards Identifiers for HIBCH Gene

  • GC02M189263
  • GC02M189772
  • GC02M191033
  • GC02M191272
  • GC02M191271
  • GC02M190894
  • GC02M190777
  • GC02M191054
  • GC02M182929

Summaries for HIBCH Gene

Entrez Gene Summary for HIBCH Gene

  • 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]

GeneCards Summary for HIBCH Gene

HIBCH (3-Hydroxyisobutyryl-CoA Hydrolase) is a Protein Coding gene. Diseases associated with HIBCH include 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency and Pyruvate Dehydrogenase E1-Alpha Deficiency. Among its related pathways are beta-Alanine metabolism (KEGG) and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include 3-hydroxyisobutyryl-CoA hydrolase activity. An important paralog of this gene is ECHS1.

UniProtKB/Swiss-Prot Summary for HIBCH Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HIBCH Gene

Genomics for HIBCH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HIBCH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J190318 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 648.4 +24.5 24455 3.3 BRCA1 CREB1 GATAD2A CTCF ZBTB33 PRDM10 REST ZNF629 TFE3 IKZF1 HIBCH ORMDL1 NEMP2 WDR75 ANKAR PMS1 C2orf88 INPP1 lnc-MSTN-3 MSTN
GH02J190342 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 629.2 +0.1 50 3.3 HNRNPL GATAD2A CTCF TFE3 NFKBIZ ZNF692 BACH1 LARP7 PRDM1 ZIC2 HIBCH INPP1 NONHSAG030095.2 WDR75 OSGEPL1-AS1
GH02J190333 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 50.8 +9.5 9549 3 GATAD2A REST TFE3 IKZF1 NFKBIZ RCOR2 JUND MTA2 RBFOX2 PKNOX1 INPP1 HIBCH C2orf88 lnc-MSTN-3 MSTN
GH02J190352 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 20.4 -12.2 -12200 8.9 GATAD2A ATF7 REST TFE3 RFX1 LEF1 SOX13 IKZF1 NFKBIZ RCOR2 INPP1 HIBCH MFSD6 NONHSAG030095.2
GH02J190271 Enhancer 0.9 Ensembl 47.3 +71.7 71693 1.4 LEF1 IKZF1 JUND DDX20 MTA2 MTA1 BRD9 ZNF24 DPF2 HDAC1 HIBCH lnc-MSTN-3 piR-30876-063 lnc-C2orf88-3 INPP1 MSTN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIBCH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HIBCH

Top Transcription factor binding sites by QIAGEN in the HIBCH gene promoter:
  • FOXI1
  • HFH-3
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b

Genomic Locations for HIBCH Gene

Genomic Locations for HIBCH Gene
chr2:190,189,735-190,344,193
(GRCh38/hg38)
Size:
154,459 bases
Orientation:
Minus strand
chr2:191,054,461-191,208,919
(GRCh37/hg19)
Size:
154,459 bases
Orientation:
Minus strand

Genomic View for HIBCH Gene

Genes around HIBCH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIBCH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIBCH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIBCH Gene

Proteins for HIBCH Gene

  • Protein details for HIBCH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NVY1-HIBCH_HUMAN
    Recommended name:
    3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
    Protein Accession:
    Q6NVY1
    Secondary Accessions:
    • D3DPI4
    • Q53GA8
    • Q53GF2
    • Q53RF7
    • Q53TC6
    • Q92931
    • Q9BS94

    Protein attributes for HIBCH Gene

    Size:
    386 amino acids
    Molecular mass:
    43482 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC52114.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH05190.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAY24178.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96699.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96743.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HIBCH Gene

    Alternative splice isoforms for HIBCH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIBCH Gene

Selected DME Specific Peptides for HIBCH Gene

Q6NVY1:
  • IGLFPDVGGGYFLPRL
  • MEYRLSQACM
  • KAFCAGGD
  • LALTGFRLKG
  • KSPSKEN
  • RLKGRDV
  • EGVRAVLIDK

Post-translational modifications for HIBCH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for HIBCH Gene

Gene Families for HIBCH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for HIBCH Gene

Suggested Antigen Peptide Sequences for HIBCH Gene

GenScript: Design optimal peptide antigens:
  • 3-hydroxyisobutyryl-coenzyme A hydrolase (HIBCH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NVY1

UniProtKB/Swiss-Prot:

HIBCH_HUMAN :
  • Belongs to the enoyl-CoA hydratase/isomerase family.
Family:
  • Belongs to the enoyl-CoA hydratase/isomerase family.
genes like me logo Genes that share domains with HIBCH: view

Function for HIBCH Gene

Molecular function for HIBCH Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-hydroxy-2-methylpropanoyl-CoA + H2O = 3-hydroxy-2-methylpropanoate + CoA + H(+); Xref=Rhea:RHEA:20888, ChEBI:CHEBI:11805, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57340; EC=3.1.2.4; Evidence={ECO:0000269|PubMed:8824301};.

Enzyme Numbers (IUBMB) for HIBCH Gene

Phenotypes From GWAS Catalog for HIBCH Gene

Gene Ontology (GO) - Molecular Function for HIBCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003860 3-hydroxyisobutyryl-CoA hydrolase activity IEA,IDA 8824301
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HIBCH: view
genes like me logo Genes that share phenotypes with HIBCH: view

Human Phenotype Ontology for HIBCH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for HIBCH

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIBCH

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HIBCH Gene

Localization for HIBCH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIBCH Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIBCH gene
Compartment Confidence
mitochondrion 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HIBCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IBA 21873635
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with HIBCH: view

Pathways & Interactions for HIBCH Gene

genes like me logo Genes that share pathways with HIBCH: view

UniProtKB/Swiss-Prot Q6NVY1-HIBCH_HUMAN

  • Pathway: Amino-acid degradation; L-valine degradation.

Gene Ontology (GO) - Biological Process for HIBCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006574 valine catabolic process IEA --
GO:0009083 branched-chain amino acid catabolic process IEA,TAS --
genes like me logo Genes that share ontologies with HIBCH: view

No data available for SIGNOR curated interactions for HIBCH Gene

Drugs & Compounds for HIBCH Gene

(6) Drugs for HIBCH Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Quercetin Experimental, Investigational Pharma Target Antitumor agent, Non-selective PI 3-kinase inhibitor 54
Hydracrylic acid Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(5) Additional Compounds for HIBCH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-3-Hydroxyisobutyric acid
  • (S)-3-Hydroxy-2-methylpropanoic acid
  • (S)-3-Hydroxy-2-methylpropionic acid
  • (S)-3-Hydroxy-2-methylpropanoate
  • (S)-3-Hydroxyisobutyrate
  • (S)-3-Hydroxy-2-methylpropionate
2068-83-9
(S)-3-Hydroxyisobutyryl-CoA
  • (S)-3-Hydroxyisobutyryl-coenzyme A
  • 3-Hydroxy-2-methylpropanoyl-CoA
  • 3-Hydroxy-2-methylpropanoyl-coenzyme A
  • 3-Hydroxy-2-methylpropionyl-CoA
  • 3-Hydroxy-2-methylpropionyl-coenzyme A
319440-43-2
3-Hydroxypropionyl-CoA
  • 3-Hydroxypropanoyl coenzymea
  • 3-Hydroxypropanoyl-CoA
  • 3-Hydroxypropanoyl-coenzyme A
  • 3-Hydroxypropionyl coenzyme A
157786-88-4
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with HIBCH: view

Transcripts for HIBCH Gene

mRNA/cDNA for HIBCH Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIBCH

Alternative Splicing Database (ASD) splice patterns (SP) for HIBCH Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17
SP1: - - - - - -
SP2: - - - -
SP3:
SP4:

Relevant External Links for HIBCH Gene

GeneLoc Exon Structure for
HIBCH

Expression for HIBCH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HIBCH Gene

Protein differential expression in normal tissues from HIPED for HIBCH Gene

This gene is overexpressed in Kidney (10.3) and Adrenal (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIBCH Gene



Protein tissue co-expression partners for HIBCH Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HIBCH

SOURCE GeneReport for Unigene cluster for HIBCH Gene:

Hs.656685

mRNA Expression by UniProt/SwissProt for HIBCH Gene:

Q6NVY1-HIBCH_HUMAN
Tissue specificity: Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung.

Evidence on tissue expression from TISSUES for HIBCH Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Intestine(4.3)
  • Kidney(3.6)
  • Heart(2.3)
  • Muscle(2.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HIBCH Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • skull
Thorax:
  • heart
  • heart valve
Abdomen:
  • kidney
General:
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with HIBCH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HIBCH Gene

Orthologs for HIBCH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HIBCH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HIBCH 30 31
  • 99.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HIBCH 30 31
  • 90.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HIBCH 30 31
  • 88.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hibch 30 17 31
  • 84.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hibch 30
  • 82.09 (n)
Oppossum
(Monodelphis domestica)
Mammalia HIBCH 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HIBCH 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HIBCH 30 31
  • 72.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HIBCH 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hibch 30
  • 68.27 (n)
Str.19147 30
Zebrafish
(Danio rerio)
Actinopterygii hibch 30 31
  • 63.46 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5044 30 31 32
  • 53.14 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004097 30
  • 51.68 (n)
Worm
(Caenorhabditis elegans)
Secernentea F09F7.4 30 31
  • 53.92 (n)
OneToOne
F09F7.4b 32
  • 46 (a)
F09F7.4a 32
  • 45 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EHD3 30 31 33
  • 47.22 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR024C 30
  • 46.88 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18678g 30
  • 46.81 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G30660 30
  • 51.34 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0264500 30
  • 50.19 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5609 31
  • 52 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2D10.09 30
  • 48.97 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03777 30
  • 47.29 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5474 30
Species where no ortholog for HIBCH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HIBCH Gene

ENSEMBL:
Gene Tree for HIBCH (if available)
TreeFam:
Gene Tree for HIBCH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HIBCH: view image

Paralogs for HIBCH Gene

Paralogs for HIBCH Gene

Pseudogenes.org Pseudogenes for HIBCH Gene

genes like me logo Genes that share paralogs with HIBCH: view

Variants for HIBCH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HIBCH Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
641906 Uncertain Significance: Beta-hydroxyisobutyryl-CoA deacylase deficiency 190,294,612(-) C/G MISSENSE_VARIANT
642439 Uncertain Significance: Beta-hydroxyisobutyryl-CoA deacylase deficiency 190,246,169(-) A/G MISSENSE_VARIANT
654855 Pathogenic: Beta-hydroxyisobutyryl-CoA deacylase deficiency 190,252,215(-) CT/C FRAMESHIFT_VARIANT
664250 Uncertain Significance: Beta-hydroxyisobutyryl-CoA deacylase deficiency 190,205,225(-) A/C MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
668485 Likely Benign: not provided 190,212,945(-) T/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HIBCH Gene

Structural Variations from Database of Genomic Variants (DGV) for HIBCH Gene

Variant ID Type Subtype PubMed ID
esv3593752 CNV loss 21293372
nsv961920 CNV duplication 23825009

Variation tolerance for HIBCH Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.31; 88.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIBCH Gene

Human Gene Mutation Database (HGMD)
HIBCH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIBCH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIBCH Gene

Disorders for HIBCH Gene

MalaCards: The human disease database

(10) MalaCards diseases for HIBCH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-hydroxyisobutyryl-coa hydrolase deficiency
  • hibchd
pyruvate dehydrogenase e1-alpha deficiency
  • pdhad
alpha-methylacetoacetic aciduria
  • 2-methyl-3-hydroxybutyric acidemia
propionic acidemia
  • propionyl-coa carboxylase deficiency
biotinidase deficiency
  • btd deficiency
- elite association - COSMIC cancer census association via MalaCards
Search HIBCH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HIBCH_HUMAN
  • 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]: An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. {ECO:0000269 PubMed:17160907}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HIBCH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HIBCH: view

No data available for Genatlas for HIBCH Gene

Publications for HIBCH Gene

  1. Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase. (PMID: 8824301) Hawes JW … Harris RA (The Journal of biological chemistry 1996) 2 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. (PMID: 17160907) Loupatty FJ … Wanders RJ (American journal of human genetics 2007) 3 4
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for HIBCH Gene

Sources for HIBCH Gene