NP_004484
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
25,984 Da
NCBI Official Full Name
3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1
NCBI Official Synonym Full Names
hydroxysteroid (17-beta) dehydrogenase 10
NCBI Official Synonym Symbols
ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; 17b-HSD10; DUPXp11.22 [Similar Products]
NCBI Protein Information
3-hydroxyacyl-CoA dehydrogenase type-2
UniProt Protein Name
3-hydroxyacyl-CoA dehydrogenase type-2
UniProt Synonym Protein Names
17-beta-hydroxysteroid dehydrogenase 10 (EC:1.1.1.51); 17-beta-HSD 10; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase (EC:1.1.1.178); 3-hydroxyacyl-CoA dehydrogenase type II; Endoplasmic reticulum-associated amyloid beta-peptide-binding protein; Mitochondrial ribonuclease P protein 2; Mitochondrial RNase P protein 2; Short chain dehydrogenase/reductase family 5C member 1; Short-chain type dehydrogenase/reductase XH98G2; Type II HADH
UniProt Synonym Gene Names
ERAB; HADH2; MRPP2; SCHAD; SDR5C1; XH98G2; 17-beta-HSD 10; Mitochondrial RNase P protein 2 [Similar Products]
UniProt Entry Name
HCD2_HUMAN
NCBI Summary for HSD17B10
This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]
UniProt Comments for HSD17B10
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.
Protein type: EC 1.1.1.178; Oxidoreductase; EC 1.1.1.51; Mitochondrial; EC 1.1.1.35; Amino Acid Metabolism - valine, leucine and isoleucine degradation
Chromosomal Location of Human Ortholog: Xp11.2
Cellular Component: mitochondrion; mitochondrial matrix; endoplasmic reticulum; mitochondrial inner membrane; cytoplasm; plasma membrane
Molecular Function: 3(or 17)beta-hydroxysteroid dehydrogenase activity; protein binding; 7-alpha-hydroxysteroid dehydrogenase activity; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; 3-hydroxyacyl-CoA dehydrogenase activity
Biological Process: tRNA processing; lipid metabolic process; branched chain family amino acid catabolic process
Disease: Mental Retardation, X-linked, Syndromic 10; 17-beta-hydroxysteroid Dehydrogenase X Deficiency
Research Articles on HSD17B10
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Pathways associated with anti-HSD17B10 antibody
Diseases associated with anti-HSD17B10 antibody
Organs/Tissues associated with anti-HSD17B10 antibody
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