BD-PP0310

MITF (phospho Ser180) Rabbit Polyclonal Antibody

MITF; BHLHE32; Microphthalmia-associated transcription factor; Class E basic helix-loop-helix protein 32; bHLHe32

常规抗体

MITF

Microphthalmia-associated transcription factor

WB

Human,Mouse,Monkey

1 mg/ml

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.

4286

http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4286

O75030

http://www.uniprot.org/uniprotkb/O75030/entry

17342

http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=17342

Q08874

http://www.uniprot.org/uniprot/Q08874

The antiserum was produced against synthesized peptide derived from human MITF around the phosphorylation site of Ser180/73. AA range:151-200

Phospho-MITF (S180) Polyclonal Antibody detects endogenous levels of MITF protein only when phosphorylated at S180.

WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:10000.. IF 1:50-200

52kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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],

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.

Nucleus . Cytoplasm . Found exclusively in the nucleus upon phosphorylation. .

Melanogenesis;Pathways in cancer;Melanoma;

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') 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.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.