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AUH Gene(Protein Coding)

AU RNA Binding Methylglutaconyl-CoA Hydratase

GCID:
GC09M091213
GIFtS:
50
Genes Participants
UDN Logo

Aliases for AUH Gene

Aliases for AUH Gene

  • AU RNA Binding Methylglutaconyl-CoA Hydratase 2 3 5
  • AU RNA-Binding Protein/Enoyl-Coenzyme A Hydratase 2 3
  • AU-Specific RNA-Binding Enoyl-CoA Hydratase 3 4
  • AU RNA Binding Protein/Enoyl-CoA Hydratase 2 3
  • AU-Binding Protein/Enoyl-CoA Hydratase 3 4
  • Itaconyl-CoA Hydratase 3 4
  • AU RNA Binding Protein/Enoyl-Coenzyme A Hydratase 2
  • Methylglutaconyl-CoA Hydratase, Mitochondrial 3
  • 3-Methylglutaconyl-CoA Hydratase 3
  • EC 4.2.1.18 4
  • EC 4.2.1.56 4

External Ids for AUH Gene

Previous GeneCards Identifiers for AUH Gene

  • GC09M084815
  • GC09M085704
  • GC09M087275
  • GC09M089317
  • GC09M091055
  • GC09M093015
  • GC09M093976
  • GC09M063656

Summaries for AUH Gene

Entrez Gene Summary for AUH Gene

  • This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

GeneCards Summary for AUH Gene

AUH (AU RNA Binding Methylglutaconyl-CoA Hydratase) is a Protein Coding gene. Diseases associated with AUH include 3-Methylglutaconic Aciduria, Type I and 3-Methylglutaconic Aciduria. Among its related pathways are Metabolism and Amino Acid metabolism. Gene Ontology (GO) annotations related to this gene include RNA binding and enoyl-CoA hydratase activity. An important paralog of this gene is ECHDC2.

UniProtKB/Swiss-Prot for AUH Gene

  • Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311, PubMed:12655555). Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Has very low enoyl-CoA hydratase activity (PubMed:7892223). Was originally identified as RNA-binding protein that binds in vitro to clustered 5-AUUUA-3 motifs (PubMed:7892223).

Additional gene information for AUH Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AUH Gene

Genomics for AUH Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for AUH Gene

Promoters and enhancers for AUH 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
GH09J091359 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.7 657 2.6 CLOCK ATF1 ARNT ARID4B SIN3A ZNF48 YY1 POLR2B ZNF207 ZNF143 AUH LINC00475 NOL8 IARS MTND4P15 LINC00484 ENSG00000230537 GC09M091273
GH09J091116 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +243.1 243073 4.1 USF1 JUN MAX RAD21 GATA3 POLR2A RCOR1 FOS L3MBTL2 RXRA LINC00484 AUH ENSG00000237422 LOC100507103
GH09J091394 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.7 -34.0 -34043 2.3 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 FOS RUNX3 LOC105376146 NFIL3 AUH LINC00484
GH09J091160 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.7 +197.9 197888 6.4 PKNOX1 SMAD1 ATF1 ARNT BRCA1 TCF12 ZNF766 CBX5 GATA2 ATF7 ENSG00000237422 LOC100507103 LINC00484 MTND4P15 ENSG00000230537 AUH
GH09J091427 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -66.7 -66666 2 POLR2A JUN FOSL2 FOS ZNF644 AUH MTND4LP7 CENPP LOC105376146 PIR33956
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AUH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AUH gene promoter:
  • RelA
  • NF-kappaB1
  • NF-kappaB
  • FOXJ2 (long isoform)
  • FOXJ2
  • ISGF-3
  • AML1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for AUH Gene

Genomic Locations for AUH Gene
chr9:91,213,815-91,361,939
(GRCh38/hg38)
Size:
148,125 bases
Orientation:
Minus strand
chr9:93,976,097-94,124,206
(GRCh37/hg19)
Size:
148,110 bases
Orientation:
Minus strand

Genomic View for AUH Gene

Genes around AUH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AUH Gene

Proteins for AUH Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    Q13825-AUHM_HUMAN
    Recommended name:
    Methylglutaconyl-CoA hydratase, mitochondrial
    Protein Accession:
    Q13825
    Secondary Accessions:
    • B1ALV7
    • B1ALV8
    • Q8WUE4

    Protein attributes for AUH Gene

    Size:
    339 amino acids
    Molecular mass:
    35609 Da
    Quaternary structure:
    • Homohexamer.

    Three dimensional structures from OCA and Proteopedia for AUH Gene

    Alternative splice isoforms for AUH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AUH Gene

Protein Expression for AUH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AUH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AUH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AUH Gene

Domains & Families for AUH Gene

Gene Families for AUH Gene

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

Protein Domains for AUH Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AUH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13825

UniProtKB/Swiss-Prot:

AUHM_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 AUH: view

Function for AUH Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for AUH Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311, PubMed:12655555). Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Has very low enoyl-CoA hydratase activity (PubMed:7892223). Was originally identified as RNA-binding protein that binds in vitro to clustered 5-AUUUA-3 motifs (PubMed:7892223).
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-hydroxy-3-methylglutaryl-CoA = trans-3-methylglutaconyl-CoA + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
Citramalyl-CoA = itaconyl-CoA + H(2)O.

Enzyme Numbers (IUBMB) for AUH Gene

Phenotypes From GWAS Catalog for AUH Gene

Gene Ontology (GO) - Molecular Function for AUH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003730 mRNA 3-UTR binding IDA 7892223
GO:0003824 catalytic activity IEA --
GO:0004300 enoyl-CoA hydratase activity IDA 7892223
GO:0004490 methylglutaconyl-CoA hydratase activity EXP 12434311
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with AUH: view
genes like me logo Genes that share phenotypes with AUH: view

Human Phenotype Ontology for AUH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for AUH Gene

miRTarBase miRNAs that target AUH

Inhibitory RNA Products

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

Clone Products

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

Localization for AUH Gene

Subcellular locations from UniProtKB/Swiss-Prot for AUH 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 AUH gene
Compartment Confidence
mitochondrion 5
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for AUH Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AUH Gene

Pathways & Interactions for AUH Gene

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

Pathways by source for AUH Gene

2 BioSystems pathways for AUH Gene

UniProtKB/Swiss-Prot Q13825-AUHM_HUMAN

  • Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 3/3.

Gene Ontology (GO) - Biological Process for AUH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process IEA --
GO:0006635 fatty acid beta-oxidation IBA --
GO:0008152 metabolic process IEA --
GO:0009083 branched-chain amino acid catabolic process TAS --
genes like me logo Genes that share ontologies with AUH: view

No data available for SIGNOR curated interactions for AUH Gene

Drugs & Compounds for AUH Gene

Products:

  1. Drug

(3) Drugs for AUH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(5) Additional Compounds for AUH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-hydroxy-3-methylglutaryl-coa
  • (S)-3-Hydroxy-3-methylglutaryl-CoA
  • (S)-3-Hydroxy-3-methylglutaryl-coenzyme A
  • 3-Hydroxy-3-methyl-glutaryl-CoA
  • 3-Hydroxy-3-methyl-glutaryl-coenzyme A
  • 3-Hydroxy-3-methylglutaryl-coenzyme A
 1553-55-5
3-methylglutaconyl-coa
  • 3-Methylglutaconyl-coenzyme A
  • trans-3-Methylglutaconyl-CoA
  • trans-3-Methylglutaconyl-coenzyme A
 6247-73-0
Ceramide (d18:1/16:0)
  • (2S,3R,4E)-2-acylamino-1,3-Octadec-4-enediol
  • (2S,3R,4E)-2-Acylaminooctadec-4-ene-1,3-diol
  • C16 Cer
  • C16 Ceramide
  • C16-0(Palmitoyl)ceramide
genes like me logo Genes that share compounds with AUH: view

Transcripts for AUH Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AUH Gene

(13) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(102) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AUH Gene

AU RNA binding protein/enoyl-CoA hydratase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2: - -
SP3: -
SP4:

Relevant External Links for AUH Gene

GeneLoc Exon Structure for
AUH
ECgene alternative splicing isoforms for
AUH

Expression for AUH Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for AUH Gene
mRNA expression by BioGPS for AUH GenemRNA expression by GTEx for AUH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AUH Gene

This gene is overexpressed in Salivary gland (11.8), Brain (10.5), Frontal cortex (7.3), and Skin (6.5).

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



Protein tissue co-expression partners for AUH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AUH Gene:

AUH

SOURCE GeneReport for Unigene cluster for AUH Gene:

Hs.175905

Evidence on tissue expression from TISSUES for AUH Gene

  • Liver(4.2)
  • Nervous system(2.4)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • tongue
Thorax:
  • heart
Abdomen:
  • adrenal gland
Pelvis:
  • prostate
  • urinary bladder
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with AUH: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AUH Gene

Orthologs for AUH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AUH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AUH 34 33
  • 99.41 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia AUH 33
  • 89.58 (n)
rat
(Rattus norvegicus)
 Mammalia Auh 33
  • 85.79 (n)
cow
(Bos Taurus)
 Mammalia AUH 34
  • 85 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Auh 16 34 33
  • 84.75 (n)
oppossum
(Monodelphis domestica)
 Mammalia AUH 34
  • 76 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 28 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves AUH 34 33
  • 77.2 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia AUH 34
  • 73 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia auh 33
  • 68.51 (n)
Str.17781 33
zebrafish
(Danio rerio)
 Actinopterygii auh 34 33
  • 67.76 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2935 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011354 33
  • 58.03 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG8778 34 35 33
  • 56.19 (n)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea ech-5 34 33
  • 51.99 (n)
 OneToMany
F56B3.5 35
  • 48 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT4G16800 33
  • 51.74 (n)
rice
(Oryza sativa)
 Liliopsida Os02g0654100 33
  • 54.02 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.1444 34
  • 57 (a)
 OneToOne
Cin.13481 33
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.13481 33
Species where no ortholog for AUH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 AUH Gene

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

Paralogs for AUH Gene

Paralogs for AUH Gene

(2) SIMAP similar genes for AUH Gene using alignment to 2 proteins:

  • AUHM_HUMAN
  • B4DYI6_HUMAN
genes like me logo Genes that share paralogs with AUH: view

Variants for AUH Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for AUH Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1057515675 uncertain-significance, 3-Methylglutaconic aciduria 91,214,129(-) CT/ 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1057515676 uncertain-significance, 3-Methylglutaconic aciduria 91,361,806(-) C/A 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1057515677 uncertain-significance, 3-Methylglutaconic aciduria 91,361,919(-) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs10991898 benign, likely-benign, not specified, 3-Methylglutaconic aciduria 91,355,976(-) C/T intron_variant
rs121434636 pathogenic, 3-Methylglutaconic aciduria 91,297,993(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv21900 CNV loss 19812545
esv2491583 CNV deletion 19546169
esv2657277 CNV deletion 23128226
esv2676899 CNV deletion 23128226
esv3303216 CNV mobile element insertion 20981092
esv3337917 CNV insertion 20981092
esv3621048 CNV gain 21293372
esv3621057 CNV loss 21293372
esv3621058 CNV loss 21293372
esv3621060 CNV loss 21293372
nsv1152839 CNV duplication 26484159
nsv523129 CNV loss 19592680

Variation tolerance for AUH Gene

Residual Variation Intolerance Score: 63.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AUH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AUH Gene

MalaCards: The human disease database

(7) MalaCards diseases for AUH Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AUH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AUHM_HUMAN
  • 3-methylglutaconic aciduria 1 (MGA1) [MIM:250950]: An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGA1 can be distinguished from other forms of MGA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3-hydroxyisovaleric acid excretion (not present in other MGA forms). {ECO:0000269 PubMed:12655555}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AUH

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

No data available for Genatlas for AUH Gene

Publications for AUH Gene

  1. AUH, a gene encoding an AU-specific RNA binding protein with intrinsic enoyl-CoA hydratase activity. (PMID: 7892223) Nakagawa J … Moroni C (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 22 58
  2. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (PMID: 12655555) Ly TB … Zschocke J (Human mutation 2003) 3 4 22 58
  3. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. (PMID: 12434311) IJlst L … Wanders RJ (American journal of human genetics 2002) 3 4 22 58
  4. Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase. (PMID: 11738050) Kurimoto K … Yokoyama S (Structure (London, England : 1993) 2001) 3 4 22 58
  5. A bifunctional protein regulates mitochondrial protein synthesis. (PMID: 24598254) Richman TR … Filipovska A (Nucleic acids research 2014) 2 3 58

Products for AUH Gene

Sources for AUH Gene

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