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  • Gene/Protein: MITF
  • Product Description: Immunotag™ MITF Polyclonal Antibody
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Immunotag™ MITF Polyclonal Antibody
Antibody Specification
Target Protein MITF
Clonality Polyclonal
Storage/Stability -20°C/1 year
Application WB,IHC-p,IF,ELISA
Recommended Dilution Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/100 - 1/300. Immunofluorescence: 1/200 - 1/1000. ELISA: 1/10000. Not yet tested in other applications.
Concentration 1 mg/ml
Reactive Species Human,Mouse
Host Species Rabbit
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.
Purification The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen
Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Gene Name MITF
Accession No. O75030 Q08874
Alternate Names MITF; BHLHE32; Microphthalmia-associated transcription factor; Class E basic helix-loop-helix protein 32; bHLHe32
Description melanogenesis associated transcription factor(MITF) Homo sapiens 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],
Cell Pathway/ Category Melanogenesis,Pathways in cancer,Melanoma,
Protein Expression Blood,Kidney,Skin,Uterus,
Subcellular Localization nucleus,nucleoplasm,protein complex,
Protein Function 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') found in the tyrosinase promoter. Plays a critical role in the differentiation of various cell types as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.,PTM:Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter.,similarity:Belongs to the MiT/TFE family.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,subunit:Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC.,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 not in melanocyte-lineage cells.,
Usage For Research Use Only! Not for diagnostic or therapeutic procedures.
Material Safety Data Sheet

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