En basal transkriptionsfaktor för spiral-ögla-spiral-leucinblixtlås som reglerar celldifferentiering och utveckling av en rad olika celltyper, inklusive melanocyter, osteoklaster och näthinnepigmentepitel. Mutationer i MITF-protein har satts i samband med osteopetros (marmorbensjuka) och Waardenburgs syndrom.
A basic helix-loop-helix leucine zipper transcription factor that regulates the CELL DIFFERENTIATION and development of a variety of cell types including MELANOCYTES; OSTEOCLASTS; and RETINAL PIGMENT EPITHELIUM. Mutations in MITF protein have been associated with OSTEOPETROSIS and WAARDENBURG SYNDROME.
Inga svenska synonymer finns.
Microphthalmia Associated Transcription Factor — Transcription Factor, Microphthalmia-Associated — MITF Transcription Factor — Transcription Factor Microphthalmia — Microphthalmia, Transcription Factor — MITF Protein