Microphthalmia-associated transcription factor
Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the "MITF" gene.

MITF is a basic helix-loop-helix leucine zipper transcription factor involved in lineage-specific pathway regulation of many types of cells including melanocytes, osteoclasts, and mast cells. The term "lineage-specific", since it relates to MITF, means genes or traits that are only found in a certain cell type. Therefore, MITF may be involved in the rewiring of signaling cascades that are specifically required for the survival and physiological function of their normal cell precursors.

MITF, together with transcription factor EB (TFEB), TFE3 and TFEC, belong to a subfamily of related bHLHZip proteins, termed the MiT-TFE family of transcription factors. The factors are able to form stable DNA-binding homo- and heterodimers. The gene that encodes for MITF resides at the "mi" locus in mice, and its protumorogenic targets include factors involved in cell death, DNA replication, repair, mitosis, microRNA production, membrane trafficking, mitochondrial metabolism, and much more. Mutation of this gene results in deafness, bone loss, small eyes, and poorly pigmented eyes and skin. In human subjects, because it is known that MITF controls the expression of various genes that are essential for normal melanin synthesis in melanocytes, mutations of MITF can lead to diseases such as melanoma, Waardenburg syndrome, and Tietz syndrome. Its function is conserved across vertebrates, including in fishes such as zebrafish and "Xiphophorus".

An understanding of MITF is necessary to understand how certain lineage-specific cancers and other diseases progress. In addition, current and future research can lead to potential avenues to target this transcription factor mechanism for cancer prevention .
Q8054
protein
Concept
Q7187
gene
Concept
Q377955
basic helix-loop-helix
Concept
Q2565229
leucine zipper
Concept
Q407384
transcription factor
Concept
Q247101
melanocytes
Concept
Q828410
osteoclasts
Concept
Q191989
mast cells
UNK
Q18032677
TFEB
MISC
Q18031962
TFE3
MISC
Q18036495
TFEC
MISC
Q130996
DNA replication
Concept
Q187526
melanin
Concept
Q180614
melanoma
Concept
Q1151801
Waardenburg syndrome
Concept
Q7801152
Tietz syndrome
Concept
Q169444
zebrafish
Concept
Q132098
Xiphophorus
Concept
Q336500
Microphthalmia-associated transcription factor
Concept
+32^^http://www.w3.org/2001/XMLSchema#decimal
32
NUMBER
+32^^http://www.w3.org/2001/XMLSchema#decimal
32
NUMBER
+3^^http://www.w3.org/2001/XMLSchema#decimal
3
NUMBER
instance of
encodes
subclass of