| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 3028 |
Name | HSD17B10 |
Synonym | 17b-HSD10|ABAD|CAMR|DUPXp11.22|ERAB|HADH2|HCD2|MHBD|MRPP2|MRX17|MRX31|MRXS10|SCHAD|SDR5C1;hydroxysteroid (17-beta) dehydrogenase 10;HSD17B10;hydroxysteroid (17-beta) dehydrogenase 10 |
Definition | 3-hydroxy-2-methylbutyryl-CoA dehydrogenase|3-hydroxyacyl-CoA dehydrogenase type-2|AB-binding alcohol dehydrogenase|amyloid-beta peptide binding alcohol dehydrogenase|endoplasmic reticulum-associated amyloid beta-peptide-binding protein|mitochondrial RNas |
Position | Xp11.2 |
Gene Type | protein-coding |
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PAH Type |
Description |
PAH | Personal communication to Dr. Eric D. Austin. |
| More detail of all Human literatures about HSD17B10 | |
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Pathways and Diseases |
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Pathway | Valine, leucine and isoleucine degradation;KEGG PATHWAY;hsa00280 |
Pathway | fatty acid beta-oxidation I;BioCyc;FAO-PWY |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | Metabolism of amino acids and derivatives;Reactome;REACT:13 |
Pathway | Alzheimer's disease;KEGG PATHWAY;hsa05010 |
Pathway | isoleucine degradation I;BioCyc;ILEUDEG-PWY |
Disease | 17-beta-hydroxysteroid dehydrogenase X deficiency;OMIM |
Disease | Mental retardation, X-linked syndromic 10;OMIM |
Disease | Chorioathetosis with mental retardation and abnormal behavior;OMIM |
Disease | Mental retardation, X-linked 17/31, microduplication;OMIM |
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External Links |
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Links to Entrez Gene | 3028 |
Links to all GeneRIF Items | 3028 |
Links to iHOP | 3028 |
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Sequence Information |
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Nucleotide Sequence |
>3028 : length: 759 atggcagcagcgtgtcggagcgtgaagggcctggtggcggtaataaccggaggagcctcg ggcctgggcctggccacggcggagcgacttgtggggcagggagcctctgctgtgcttctg gacctgcccaactcgggtggggaggcccaagccaagaagttaggaaacaactgcgttttc gccccagccgacgtgacctctgagaaggatgtgcaaacagctctggctctagcaaaagga aagtttggccgtgtggatgtagctgtcaactgtgcaggcatcgcggtggctagcaagacg tacaacttaaagaagggccagacccataccttggaagacttccagcgagttcttgatgtg aatctcatgggcaccttcaatgtgatccgcctggtggctggtgagatgggccagaatgaa ccagaccagggaggccaacgtggggtcatcatcaacactgccagtgtggctgccttcgag ggtcaggttggacaagctgcatactctgcttccaaggggggaatagtgggcatgacactg cccattgctcgggatctggctcccataggtctgtttggcaccccactgctgaccagcctc ccagagaaagtgtgcaacttcttggccagccaagtgcccttccctagccgactgggtgac cctgctgagtatgctcacctcgtacaggccatcatcgagaacccattcctcaatggagag gtcatccggctggatggggccattcgtatgcagccttga |
Protein Sequence |
>3028 : length: 252 MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVF APADVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDV NLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTL PIARDLAPIGLFGTPLLTSLPEKVCNFLASQVPFPSRLGDPAEYAHLVQAIIENPFLNGE VIRLDGAIRMQP |