Overview

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MGSSHHHHHH SSGLVPRGSH MVAVITGGAS GLGLATAERL VGQGASAVLL DLPNSGGEAQ AKKLGNNCVF APADVTSEKD VQTALALAKG KFGRVDVAVN CAGIAVASKT YNLKKGQTHT LEDFQRVLDV NLMGTFNVIR LVAGEMGQNE PDQGGQRGVI INTASVAAFE GQVGQAAYSA SKGGIVGMTL PIARDLAPIG IRVMTIAPGL FGTPLLTSLP EKVCNFLASQ VPFPSRLGDP AEYAHLVQAI IENPFLNGEV IRLDGAIRMQ P
    • Amino acids
      12 to 261

Specifications

Our Abpromise guarantee covers the use of ab93954 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Mass Spectrometry

    SDS-PAGE

  • Purity
    > 95 % SDS-PAGE.
    ab93954 was purified using conventional chromatography techniques.
  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    Preservative: None
    Constituents: 10% Glycerol, 20mM Tris HCl, 100mM Sodium chloride, 1mM DTT, pH 8.0

General Info

  • Alternative names
    • 17 beta hydroxysteroid dehydrogenase 10
    • 17 beta hydroxysteroid dehydrogenase type 10
    • 17-beta-HSD 10
    • 17-beta-hydroxysteroid dehydrogenase 10
    • 17b HSD10
    • 3 hydroxy 2 methylbutyryl CoA dehydrogenase
    • 3 hydroxyacyl CoA dehydrogenase type 2
    • 3 hydroxyacyl CoA dehydrogenase type II
    • 3-hydroxy-2-methylbutyryl-CoA dehydrogenase
    • 3-hydroxyacyl-CoA dehydrogenase type II
    • 3-hydroxyacyl-CoA dehydrogenase type-2
    • AB binding alcohol dehydrogenase
    • ABAD
    • Ads9
    • Amyloid beta binding polypeptide
    • Amyloid beta peptide binding alcohol dehydrogenase
    • Amyloid beta peptide binding protein
    • CAMR
    • DUPXp11.22
    • Endoplasmic Reticulum Amyloid Binding Protein
    • Endoplasmic reticulum associated amyloid beta peptide binding protein
    • Endoplasmic reticulum-associated amyloid beta-peptide-binding protein
    • ER associated amyloid beta-binding protein
    • ERAB
    • HADH 2
    • HADH2
    • HCD 2
    • HCD2
    • HCD2_HUMAN
    • Hsd17b10
    • Hydroxyacyl CoA Dehydrogenase type II
    • Hydroxyacyl Coenzyme A dehydrogenase type II
    • Hydroxysteroid (17 beta) dehydrogenase 10
    • Mental retardation X linked syndromic 11
    • MHBD
    • Mitochondrial L3 Hydroxyacyl CoA Dehydrogenase
    • Mitochondrial ribonuclease P protein 2
    • Mitochondrial RNase P protein 2
    • MRPP2
    • MRX17
    • 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
    see all
  • Function
    Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/RG9MTD1, 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).
  • Tissue specificity
    Expressed in normal tissues but is overexpressed in neurons affected in AD.
  • Involvement in disease
    Defects in HSD17B10 are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]. 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) [MIM:300220]. 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) [MIM:300705]; 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.
  • Sequence similarities
    Belongs to the short-chain dehydrogenases/reductases (SDR) family.
  • Cellular localization
    Mitochondrion.
  • Information by UniProt

Images

  • 15% SDS-PAGE analysis of ab93954 (3µg)

References

ab93954 has not yet been referenced specifically in any publications.

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