PA5-29826 targets MITF in WB applications and shows reactivity with Human samples.
The PA5-29826 immunogen is recombinant protein fragment corresponding to a region within amino acids 42 and 191 of Human MITF.
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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.
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Protein Aliases: bHLHe32; Class E basic helix-loop-helix protein 32; MI; microphtalmia-associated transcription factor; Microphthalmia-associated transcription factor; WS2; WS2A
Gene Aliases: BHLHE32; CMM8; MI; MITF; WS2; WS2A
UniProt ID: (Human) O75030
Entrez Gene ID: (Human) 4286