Family

Microphthalmia-associated transcription factor (IPR030532)

Short name: MITF

Family relationships

None.

Description

MITF (microphthalmia-associated transcription factor) is a transcription factor that activates the transcription of melanocyte-specific genes [PMID: 8749302]. It is also involved in melanocyte differentiation, proliferation, and apoptosis [PMID: 15716956, PMID: 15623583, PMID: 17182868, PMID: 16899407, PMID: 18451137]. MITF has a basic-helix-loop-helix-leucine zipper (bHLHZip) structure; its leucine zipper appears to be essential for dimerisation and DNA binding [PMID: 7958932]. MITF also has important roles in osteoclast and mast cell development and function [PMID: 17105730, PMID: 16931285].

Mutations of the MITF gene are associated with Waardenburg syndrome type 2 (WS2) [PMID: 7874167, PMID: 8589691] and and albinism-deafness (Tietz) syndrome [PMID: 9546825].

GO terms

Biological Process

GO:0097531 mast cell migration
GO:0030318 melanocyte differentiation
GO:0043473 pigmentation
GO:0042981 regulation of apoptotic process
GO:0045670 regulation of osteoclast differentiation
GO:0006357 regulation of transcription from RNA polymerase II promoter

Molecular Function

GO:0003700 transcription factor activity, sequence-specific DNA binding

Cellular Component

GO:0005634 nucleus

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER