Anti-MiTF antibody (ab73930)
- Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
- Storage bufferPreservative: 0.1% Sodium Azide
Constituents: 1% BSA, 10mM PBS, pH 7.4
- Concentration information loading...
- PurityProtein A purified
- Clonality Polyclonal
- Research Areas
Our Abpromise guarantee covers the use of ab73930 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Staining of formalin-fixed tissues requires boiling tissue sections in 10mM citrate buffer, pH 6.0 for 10 min followed by cooling at RT for 20 min.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
- FunctionTranscription 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 specificityIsoform 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 diseaseDefects 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 similaritiesBelongs to the MiT/TFE family.
Contains 1 basic helix-loop-helix (bHLH) domain.
modificationsPhosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter.
- Cellular localizationNucleus.
- BHLHE32 antibodybHLHe32 antibodyClass E basic helix-loop-helix protein 32 antibody
- CMM8 antibodyHomolog of mouse microphthalmia antibodyMi antibodyMicrophthalmia associated transcription factor antibodyMicrophthalmia, mouse, homolog of antibodyMicrophthalmia-associated transcription factor antibodyMITF antibodyMITF_HUMAN antibodyWS2 antibodyWS2A antibody
Anti-MiTF antibody images
ab73930, at 1/100 dilution, staining MiTF in Human melanoma by Immunohistochemistry using formalin-fixed, paraffin-embedded tissue.
References for Anti-MiTF antibody (ab73930)
ab73930 has not yet been referenced specifically in any publications.