Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLG QHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNT VFHCASPPPS
    • Amino acids
      1 to 110
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab162361 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • decarboxylating
    • H105E3
    • H105e3 protein
    • NAD(P) dependent steroid dehydrogenase like
    • NSDHL
    • NSDHL_HUMAN
    • Protein H105e3
    • SDR31E1
    • Short chain dehydrogenase/reductase family 31E member 1
    • Sterol 4 alpha carboxylate 3 dehydrogenase decarboxylating
    • Sterol-4-alpha-carboxylate 3-dehydrogenase
    • XAP104
    see all
  • Tissue specificity
    Brain, heart, liver, lung, kidney, skin and placenta.
  • Pathway
    Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6.
  • Involvement in disease
    Defects in NSDHL are the cause of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]. CHILD is an X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.
    Defects in NSDHL are the cause of CK syndrome (CKS) [MIM:300831]. CKS is a disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus.
  • Sequence similarities
    Belongs to the 3-beta-HSD family.
  • Cellular localization
    Membrane.
  • Information by UniProt

Images

  • ab162361 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab162361 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab162361.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

Sign up