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Protein Page:
HADH2 (human)

HADH2 Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD). Defects in HSD17B10 are the cause of 2-methyl-3- hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency). MHBD deficiency leads to neurological abnormalities, including psychomotor retardation, and, in virtually all patients, loss of mental and motor skills. Defects in HSD17B10 are the cause of mental retardation syndromic X-linked type 10 (MRXS10). MRXS10 is characterized by mild mental retardation, choreoathetosis and abnormal behavior. A chromosomal microduplication involving HSD17B10 and HUWE1 is the cause of mental retardation X-linked type 17 (MRX17); also known as mental retardation X-linked type 31 (MRX31). Mental retardation is characterized by significantly sub- average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X- linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC; EC; EC; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: Xp11.2
Cellular Component: cytoplasm; mitochondrial matrix; mitochondrion; plasma membrane
Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; 7-alpha-hydroxysteroid dehydrogenase activity; protein binding
Biological Process: branched chain family amino acid catabolic process; lipid metabolic process
Disease: 17-beta-hydroxysteroid Dehydrogenase X Deficiency; Mental Retardation, X-linked, Syndromic 10
Reference #:  Q99714 (UniProtKB)
Alt. Names/Synonyms: 17-beta-HSD 10; 17-beta-hydroxysteroid dehydrogenase 10; 17-beta-hydroxysteroid dehydrogenase type 10; 17b-HSD10; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase; 3-hydroxyacyl-CoA dehydrogenase type II; 3-hydroxyacyl-CoA dehydrogenase type-2; AB-binding alcohol dehydrogenase; ABAD; amyloid-beta binding polypeptide; amyloid-beta peptide binding alcohol dehydrogenase; CAMR; DUPXp11.22; Endoplasmic reticulum-associated amyloid beta-peptide-binding protein; ERAB; HADH2; HCD2; HSD17B10; hydroxysteroid (17-beta) dehydrogenase 10; mental retardation, X-linked, syndromic 10; mental retardation, X-linked, syndromic 11; MHBD; Mitochondrial ribonuclease P protein 2; Mitochondrial RNase P protein 2; MRPP2; MRX17; MRX31; MRXS10; SCHAD; SDR5C1; short chain dehydrogenase/reductase family 5C, member 1; short chain L-3-hydroxyacyl-CoA dehydrogenase type 2; short chain type dehydrogenase/reductase XH98G2; Short-chain type dehydrogenase/reductase XH98G2; type 10 17b-HSD; type 10 17beta-hydroxysteroid dehydrogenase; Type II HADH; XH98G2
Gene Symbols: HSD17B10
Molecular weight: 26,923 Da
Basal Isoelectric point: 7.65  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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