Recombinant Human MITF, GST-tagged

• Cat.No.: MITF-30239TH
• Product Overview: Recombinant fragment with GST tag corresponding to amino acids 170-279 of Human MiTF; 110 amino acids, 38kDa.

Specification

• Description: 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.
• Conjugation: GST
• Source: E. coli
• Tissue specificity: Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but n
• Form: Liquid
• Storage buffer: Preservative: NoneConstituents: 20% Glycerol, 50mM Tris acetate, 1mM EDTA, pH 7.5
• Storage: Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
• Sequence Similarities: Belongs to the MiT/TFE family.Contains 1 basic helix-loop-helix (bHLH) domain.

Gene Information

• Gene Name: MITF microphthalmia-associated transcription factor [ Homo sapiens ]
• Official Symbol: MITF
• Synonyms: MITF; microphthalmia-associated transcription factor; Waardenburg syndrome, type 2A , WS2, WS2A; bHLHe32; homolog of mouse microphthalmia; MI
• Gene ID: 4286
• mRNA Refseq: NM_000248
• Protein Refseq: NP_000239
• MIM: 156845
• Uniprot ID: O75030
• Chromosome Location: 3p14.1-p12.3
• Pathway: IL6-mediated signaling events, organism-specific biosystem; Kit Receptor Signaling Pathway, organism-specific biosystem; Melanogenesis, organism-specific biosystem; Melanogenesis, conserved biosystem; Melanoma, organism-specific biosystem
• Function: DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; protein binding