Recombinant Human MiTF protein (ab158898)
- Datasheet
- References
- Protocols
Description
-
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 -
-
Species
Human -
Sequence
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISS SSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINV SVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANK HANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFE EQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQ MANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARAL AKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKA SVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSL IPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTIT FNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPG ASKTSSRRSSMSMEETEHTC -
Amino acids
1 to 520 -
Tags
GST 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
-
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
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
-
SDS-PAGE - Recombinant Human MiTF protein (ab158898)ab158898 on a 12.5% SDS-PAGE stained with Coomassie Blue.
Datasheets and documents
References
ab158898 has not yet been referenced specifically in any publications.
