Mouse Anti-MITF antibody | Sunlong Medical

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MITF_HUMAN; Microphthalmia-associated transcription factor; BHLHE32; Class E basic helix-loop-helix protein 32 (bHLHe32); MI; WS2; CMM8; WS2A; COMMAD; MITF-A;

Cat:

SLM51339M

Species Reactivity：

Human,(predicted: Mouse,Rat,)

Immunogen：

Recombinant human MITF

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Monoclonal

Isotype：

IgG1,k

Applications：

WB=1:1000-2000IHC-P=1:100-500IHC-F=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Mouse

Product Overview：

Sample: A431(Human) Cell Lysate at 30 ugPrimary: Anti- MITF (SLM51339M) at 1/1000 dilutionSecondary: IRDye800CW Goat Anti-Mouse IgG at 1/20000 dilutionPredicted band size: 59 kDObserved band size: 59 kD

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Unit:

Price: $316.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is 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. [provided by RefSeq, Aug 2017]

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.

SWISS:
O75030

Gene ID:
4286

Database links:

Entrez Gene: 4286 Human

Entrez Gene: 17342 Mouse

Entrez Gene: 25094 Rat

SwissProt: O75030 Human

SwissProt: Q08874 Mouse

SwissProt: O88368 Rat

Picture

Sample:
A431(Human) Cell Lysate at 30 ug
Primary: Anti- MITF (SLM51339M) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Mouse IgG at 1/20000 dilution
Predicted band size: 59 kD
Observed band size: 59 kD

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