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Mouse Anti-MITF/FITC Conjugated antibody
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].
Function:
Transcription factor for tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) that plays a key role in melanocyte development. 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.
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. Interacts with KARS.
Subcellular Location:
Nucleus.
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.
Post-translational modifications:
Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. Phosphorylated at Ser-36 and Ser-516 following KIT signaling, trigerring a short live activation: Phosphorylation at Ser-36 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome.
Ubiquitinated following phosphorylation at Ser-36, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation.
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.
[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 (TIETZS) [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 a cause of susceptibility to cutaneous malignant melanoma type 8 (CMM8) [MIM:614456]. A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.
Similarity:
Belongs to the MiT/TFE family.
Contains 1 basic helix-loop-helix (bHLH) domain.
Database links:
Entrez Gene: 4286 Human
Entrez Gene: 17342 Mouse
Entrez Gene: 25094 Rat
Omim: 156845 Human
SwissProt: O75030 Human
SwissProt: Q08874 Mouse
SwissProt: O88368 Rat
Unigene: 166017 Human
Unigene: 618266 Human
Unigene: 333284 Mouse
Unigene: 454504 Mouse
Unigene: 31427 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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