Target：MITF
Fields：Mitophagy - animal;Osteoclast differentiation;Melanogenesis;Pathways in cancer;Transcriptional misregulation in cancer;Melanoma
Gene Name：MITF
Protein Name：Microphthalmia-associated transcription factor
Human Gene Id：4286
Human Swiss Prot No：O75030
Mouse Gene Id：17342
Mouse Swiss Prot No：Q08874
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.
Source：Polyclonal, Rabbit,IgG
Dilution：WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:10000.. IF 1:50-200
Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration：1 mg/ml
Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name：MITF;BHLHE32;Microphthalmia-associated transcription factor;Class E basic helix-loop-helix protein 32;bHLHe32
Observed Band(KD)：52kD
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
Subcellular Location：Nucleus . Cytoplasm . Found exclusively in the nucleus upon phosphorylation. .
Expression：Expressed in melanocytes (at protein level). ; [Isoform A2]: Expressed in the retinal pigment epithelium, brain, and placenta (PubMed:9647758). Expressed in the kidney (PubMed:9647758, PubMed:10578055). ; [Isoform C2]: Expressed in the kidney and retinal pigment epithelium. ; [Isoform H1]: Expressed in the kidney. ; [Isoform H2]: Expressed in the kidney. ; [Isoform M1]: Expressed in melanocytes. ; [Isoform Mdel]: Expressed in melanocytes.
