|Application ||IHC, IF, FC|
|Other Accession||4286, 166017, 618266|
|Isotype||Mouse / IgG1, kappa|
|Calculated MW||52-56kDa (doublet)|
|Other Names||Microphthalmia-associated transcription factor, Class E basic helix-loop-helix protein 32, bHLHe32, MITF, BHLHE32|
|Storage||Store at 2 to 8°C.Antibody is stable for 24 months.|
|Precautions||Microphthalmia Transcription Factor (MITF) Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to symmetrical DNA sequences (E-boxes) (5'- CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest- derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.|
|Tissue Location||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. Isoform Mdel is widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines|
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MITF (microphthalmia transcription factor) is a basic helix-loop-helix-leucine-zipper (bHLH-Zip) transcription factor that regulates the development and survival of melanocytes and retinal pigment epithelium, and also is involved in transcription of pigmentation enzyme genes such as tyrosinase TRP1 and TRP2. MITF has been shown to be phosphorylated by MAP kinase in response to c-kit activation, resulting in upregulation of MITF transcriptional activity. Mutations of the MITF gene are associated with the autosomal dominant hereditary deafness and pigmentation condition, Waardenburg Syndrome type 2A. Multiple isoforms of MITF exist, including MITF-A, MITF-B, MITF-C, MITF-H, and MITF-M, which differ in the amino-terminal domain and in their expression patterns. The MITF-M isoform is restricted to the melanocyte cell lineage. Anti-MITF, D5, recognizes a nuclear protein, which is expressed in the majority of primary and metastatic epithelioid malignant melanomas as well as in normal melanocytes, benign nevi and dysplastic nevi.
Hemesath P, et. al. MAP kinase links the transcription factor microphthalmia to c-Kit signalling in melanocytes. Nature. 1998, 391:298-301 | Weilbaecher KN, et. al. Age-resolving osteopetrosis: a rat model implicating microphthalmia and the related transcription factor TFE3. J. Exp.Med. 1998, 187: 775-785 |
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