Article
Microphthalmia-associated transcription factor (MITF): multiplicity in structure, function, and regulation.
The journal of investigative dermatology. Symposium proceedings - 1 Nov 2001
Shibahara S, Takeda K, Yasumoto K, Udono T, Watanabe K, Saito H, Takahashi K
Abstract excerpt
Microphthalmia-associated transcription factor (MITF) regulates the differentiation and development of melanocytes and retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the MITF gene cause auditory-pigmentary syndromes. MITF consists of at least five isoforms, MITF-A, MITF-B, MITF-C, MITF-H, and MITF-M, differing...
Topics
- Amino Acid Sequence
- Animals
- DNA-Binding Proteins
- Gene Expression Regulation
- Humans
- Microphthalmia-Associated Transcription Factor
- Molecular Sequence Data
- Mutation
- Promoter Regions, Genetic
- Proto-Oncogene Proteins
- Signal Transduction
- Tietze's Syndrome