The antiserum was produced against synthesized peptide derived from human MITF. AA range:151-200

MITF Polyclonal Antibody detects endogenous levels of MITF protein.

MITF

Microphthalmia-associated transcription factor

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

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],

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.,

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

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.

>>Mitophagy - animal ;
>>Osteoclast differentiation ;
>>Melanogenesis ;
>>Pathways in cancer ;
>>Transcriptional misregulation in cancer ;
>>Melanoma