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- Table of Contents
2 Citations
Facts about Microphthalmia-associated transcription factor.
Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a crucial role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.
| Human | |
|---|---|
| Gene Name: | MITF |
| Uniprot: | O75030 |
| Entrez: | 4286 |

| Belongs to: |
|---|
| MiT/TFE family |

bHLHe32; bHLHe32MI; Class E basic helix-loop-helix protein 32; MI; microphthalmia-associated transcription factor; MITF; Waardenburg syndrome, type 2A; WS2A
Mass (kDA):
58.795 kDA

| Human | |
|---|---|
| Location: | 3p13 |
| Sequence: | 3; NC_000003.12 (69739464..69968337) |
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.
Nucleus.




PMID: 9647758 by Amae S., et al. Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium.
PMID: 8069297 by Tachibana M., et al. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.