Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISS SSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINV SVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANK HANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFE EQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQ MANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARAL AKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKA SVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSL IPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTIT FNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPG ASKTSSRRSSMSMEETEHTC
    • Amino acids
      1 to 520
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab158898 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
    • BHLHE32
    • bHLHe32
    • Class E basic helix-loop-helix protein 32
    • CMM8
    • Homolog of mouse microphthalmia
    • Mi
    • Microphthalmia associated transcription factor
    • Microphthalmia, mouse, homolog of
    • Microphthalmia-associated transcription factor
    • MITF
    • MITF_HUMAN
    • mitfa
    • nacre
    • WS2
    • WS2A
    • z3A.1
    see all
  • Function
    Transcription factor for tyrosinase and tyrosinase-related protein 1. Binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') found in the tyrosinase promoter. Plays a critical role in the differentiation of various cell types as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.
  • Tissue specificity
    Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but not in melanocyte-lineage cells.
  • Involvement in disease
    Defects in MITF are the cause of Waardenburg syndrome type 2A (WS2A) [MIM:193510]. It is a dominant inherited disorder characterized by sensorineural hearing loss and patches of depigmentation. The features show variable expression and penetrance.
    Defects in MITF are a cause of Waardenburg syndrome type 2 with ocular albinism (WS2-OA) [MIM:103470]. It is an ocular albinism with sensorineural deafness.
    Defects in MITF are the cause of Tietz syndrome (TIETZS) [MIM:103500]. It is an autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. Penetrance is complete.
  • Sequence similarities
    Belongs to the MiT/TFE family.
    Contains 1 basic helix-loop-helix (bHLH) domain.
  • Post-translational
    modifications
    Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter.
  • Cellular localization
    Nucleus.
  • Information by UniProt

Images

  • ab158898 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab158898 has not yet been referenced specifically in any publications.

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

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