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]
Catalog No
A0512
Reactivity
Human, Mouse, Monkey
Applications
WB, IHC-p, IF(paraffin section), ELISA
Modification
Phospho Specific
Source
Polyclonal Rabbit
Dilution
Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/100 - 1/300. ELISA: 1/10000. Not yet tested in other applications.
Purification
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration
1 mg/ml
Storage and Stability
-20°C/1 year
Other Name
MITF; BHLHE32; Microphthalmia-associated transcription factor; Class E basic helix-loop-helix protein 32; bHLHe32
Molecular Weight (Da)
58795
Gene Name
MITF
Protein Name
Microphthalmia-associated transcription factor
Human Gene ID
4286
Human Swiss Prot No.
O75030
Immunogen
The antiserum was produced against synthesized peptide derived from human MITF around the phosphorylation site of Ser180/73. AA range:151-200
Specificity
Phospho-MITF (S180) Polyclonal Antibody detects endogenous levels of MITF protein only when phosphorylated at S180.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.