Recombinant Human MiTF protein (ab158898)
Key features and details
- Expression system: Wheat germ
- Tags: GST tag N-Terminus
- Suitable for: WB, ELISA
Description
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Product name
Recombinant Human MiTF protein
See all MiTF proteins and peptides -
Expression system
Wheat germ -
Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISS SSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINV SVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANK HANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFE EQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQ MANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARAL AKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKA SVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSL IPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTIT FNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPG ASKTSSRRSSMSMEETEHTC -
Amino acids
1 to 520 -
Tags
GST tag N-Terminus
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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.
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Applications
Western blot
ELISA
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Form
Liquid -
Additional notes
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Concentration information loading...
Preparation and Storage
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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
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Alternative names
- BHLHE32
- bHLHe32
- Class E basic helix-loop-helix protein 32
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
modificationsPhosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. -
Cellular localization
Nucleus. - Information by UniProt
Images
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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SDS download
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Datasheet download
References (0)
ab158898 has not yet been referenced specifically in any publications.