Reactive species
Human;Mouse;Monkey
Applications
WB;IHC;IF;ELISA
Antibody type
Polyclonal Antibody
Protein name
Microphthalmia-associated transcription factor
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.
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
WB: 1/500 - 1/2000. IHC: 1/100 - 1/300. ELISA: 1/10000.. IF 1:50-200
Purification process
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Other name
MITF; BHLHE32; Microphthalmia-associated transcription factor; Class E basic helix-loop-helix protein 32; bHLHe32
Background
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],
Function
alternative products:The X2-type isoforms differ from the X1-type isoforms by the absence of a 6 residue insert,disease:Defects in MITF are a cause of Waardenburg syndrome type 2 with ocular albinism (WS2-OA) [MIM:103470]. It is an ocular albinism with sensorineural deafness.,disease:Defects in MITF are the cause of Tietz syndrome [MIM:103500]. It is an autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. Penetrance is complete.,disease:Defects in MITF are the cause of Waardenburg syndrome type 2A (WS2A) [MIM:193510]. It is a dominant inherited disorder characterized by sensorineural hearing loss and patches of depigmentation. The features show variable expression and penetrance.,function:Transcription factor for tyrosinase and tyrosinase-related protein 1. Binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') foun
