MITF Polyclonal Antibody
- Catalog No.:YT2769
- Applications:WB;IHC;IF;ELISA
- Reactivity:Human;Mouse
- 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. AA range:151-200
- Specificity:
- MITF Polyclonal Antibody detects endogenous levels of MITF protein.
- 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. IF 1:200 - 1:1000. 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 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.
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