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MITF

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]
Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Melanocytes, Oligodendrocytes, Oligodendrocyte precursor cells, Inhibitory neurons)

Immune cell specificity

Group enriched (classical monocyte, myeloid DC, non-classical monocyte, basophil, intermediate monocyte)

Cell line specificity

Cell line enhanced (HMC-1, SK-MEL-30)

Interaction

Homodimer or heterodimer; dimerization is mediated via the coiled coil region (PubMed:24631970). Efficient DNA binding requires dimerization with another bHLH protein (PubMed:14975237). Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC (PubMed:15507434). Interacts with KARS1 (PubMed:14975237). Identified in a complex with HINT1 and CTNNB1 (PubMed:22647378). Interacts with VSX2 (By similarity).

Molecular function

Activator, Developmental protein, DNA-binding

More Types Infomation

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