Microphthalmia-associated transcription factor

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Microphthalmia-associated transcription factor

Existing structural data : 4C7N

Properties of human protein
Mass / length primary structure 357 to 526 amino acids
Secondary to quaternary structure Homo- / heterodimer
Cofactor (TFE3, TFEB, TFEC)
Isoforms 12
Identifier
Gene names MITF CMM8, MI, WS2, WS2A, bHLHe32
External IDs
Orthologue
human House mouse
Entrez 4286 17342
Ensemble ENSG00000187098 ENSMUSG00000035158
UniProt O75030 Q08874
Refseq (mRNA) NM_000248 NM_001113198
Refseq (protein) NP_000239 NP_001106669
Gene locus Chr 3: 69.74 - 69.97 Mb Chr 6: 97.81 - 98.02 Mb
PubMed search 4286 17342

MITF ( microphthalmia-associated transcription factor ) is a protein found in vertebrates that is encoded by MITF genes. It is the transcription factor associated with tyrosinase and TRP-1 . MITF binds to the DNA sequences 5'-CACGTG-3 'or 5'-CATGTG-3', the so-called E-box. Ten paralogous isoforms of MITF are known in humans , which are localized in different tissue types. MITF plays a vital role in the differentiation of multiple tissues. Mutations of the MITF - gene can result in various forms of leucism and spotting lead. In addition, malformations of the eyes occur. In humans, mutations in the MITF gene can cause Tietz syndrome or Waardenburg syndrome .

In addition, the MITF gene is activated in 10–16% of all cases in metastatic melanoma . The exact role of MITF in melanoma development and progression is still unclear.

Individual evidence

  1. ↑ UniProt O75030
  2. ↑ JN Dynek et al .: Microphthalmia-associated transcription factor is a critical transcriptional regulator of melanoma inhibitor of apoptosis in melanomas. In: Cancer Res 68, 2008, pp. 3124-3132. PMID 18451137