MITF rabbit pAb

Ref. EK-ES2793

Produktinformation

• Name: MITF rabbit pAb
• Synonyme: MITF; BHLHE32; Microphthalmia-associated transcription factor; Class E basic helix-loop-helix protein 32; bHLHe32

Beschreibung

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],

• Marke: ELK Biotechnology