分子量：Calculated MW: 52kDa
Observed MW: 59KDa

细胞定位：Nucleus

稀释方法：WB 1:500 - 1:2000
IHC 1:50 - 1:200
IF 1:50 - 1:200

总结：This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]