The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/300 - 1/1000.
Use at an assay dependent concentration.
1/5000. Predicted molecular weight: 58 kDa.
Different splicing isoforms detected
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.
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.
Belongs to the MiT/TFE family. Contains 1 basic helix-loop-helix (bHLH) domain.
Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter.
Immunohistochemical analysis of RPE (Retinal Pigment Epithelium) in chicken embryo (stage 14) labelling MiTF with ab122982 at dilution of 1/300. Embryo was fixed with paraformaldehyde and embedded in OCT compound and sectioned with a cryostat at 8 μm. Alexa Fluor® 488 conjugated anti-rabbit IgG was used at the secondary antibody.
At stage 14, Mitif protein is detected throughout the RPE (Retinal Pigment Epithelium).
Geng Z et al. Generation of retinal pigmented epithelium from iPSCs derived from the conjunctiva of donors with and without age related macular degeneration. PLoS One12:e0173575 (2017).
Read more (PubMed: 28282420) »
Tsukiji N et al. Mitf functions as an in ovo regulator for cell differentiation and proliferation during development of the chick RPE. Dev Biol326:335-46 (2009).
Read more (PubMed: 19100253) »