FUNCTION: Transcription factor for tyrosinase and tyrosinase-related protein 1. Binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') found in the tyrosinase promoter. Plays a critical role in the differentiation of various cell types as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.
DISEASE: Defects in MITF are the cause of Tietz syndrome [MIM:103500]. It is an autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. Penetrance is complete
应用类型
WB
免疫原
287-417
来源宿主
鸡
反应性
人
保存建议
MITF antibody can be stored at 4˚C for short term (weeks). Long term storage should be at -20˚C. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.