ENSG00000113790
Homo sapiens | |
Features
| Gene ID: | ENSG00000113790 | | | | | Biological name : | EHHADH | | | | | Synonyms : | EHHADH / enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase / Q08426 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | -1 | | Band: | q27.2 | | Gene start: | 185190624 | | Gene end: | 185281990 | | | | | Corresponding Affymetrix probe sets: | 205222_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000396798
Ensembl peptide - ENSP00000231887
Ensembl peptide - ENSP00000387746
NCBI entrez gene - 1962
See in Manteia.
OMIM - 607037
RefSeq - XM_017005839
RefSeq - NM_001166415
RefSeq - NM_001966
RefSeq - XM_006713525
RefSeq - XM_011512517
RefSeq Peptide - NP_001159887
RefSeq Peptide - NP_001957
swissprot - Q08426
swissprot - C9JJE0
Ensembl - ENSG00000113790
| | | | | Related genetic diseases (OMIM): | 615605 - ?Fanconi renotubular syndrome 3, 615605 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
| HADHA / P40939 / hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | ENSG00000084754 | 28 | | HADH / Q16836 / hydroxyacyl-CoA dehydrogenase | ENSG00000138796 | 13 |
Protein motifs (from Interpro)
| IPR001753 | Enoyl-CoA hydratase/isomerase | | IPR006108 | 3-hydroxyacyl-CoA dehydrogenase, C-terminal | | IPR006176 | 3-hydroxyacyl-CoA dehydrogenase, NAD binding | | IPR006180 | 3-hydroxyacyl-CoA dehydrogenase, conserved site | | IPR008927 | 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily | | IPR013328 | 6-phosphogluconate dehydrogenase, domain 2 | | IPR018376 | Enoyl-CoA hydratase/isomerase, conserved site | | IPR029045 | ClpP/crotonase-like domain superfamily | | IPR036291 | NAD(P)-binding domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000093 | Proteinuria | |
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| | HP:0001942 | Metabolic acidosis | |
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| | HP:0002748 | Rickets | |
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| | HP:0002979 | Bowing of the legs | |
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| | HP:0003076 | Glycosuria | "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] |
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| | HP:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [HPO:curators] |
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| | HP:0003355 | Abnormal urinary amino-acid findings | |
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| | HP:0003828 | Variable expressivity | |
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| | HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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Interacting proteins (from Reactome)
No match
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