Mouse Microphthalmia Transcription Factor (MITF) Monoclonal Antibody | anti-MITF antibody

Microphthalmia Transcription Factor (MITF) Mouse Monoclonal Antibody

Cat. Num. AAA438955

• Gene Names: MITF; MI; WS2; CMM8; WS2A; bHLHe32
• Reactivity: Human.; Does not react with Mouse and Rat
• Applications: Flow Cytometry, Functional Assay, Immunofluorescence, Immunohistochemistry
• Synonyms: Microphthalmia Transcription Factor (MITF); Monoclonal Antibody; Microphthalmia Transcription Factor (MITF) Mouse Monoclonal Antibody; BHLHE32; Class E basic helix-loop-helix protein 32 (bHLHe32); CMM8; Mi; Microphthalmia-associated transcription factor; MITF; WS2; WS2A; anti-MITF antibody

• Host: Mouse
• Reactivity: Human.; Does not react with Mouse and Rat
• Clonality: Monoclonal
• Isotype: IgG1, kappa
• Clone Number: D5
• Specificity: MITF (microphthalmia transcription factor) is a basic helix-loop-helix-leucine-zipper (bHLH-Zip) transcription factor that regulates the development and survival of melanocytes and retinal pigment epithelium, and also is involved in transcription of pigmentation enzyme genes such as tyrosinase TRP1 and TRP2. MITF has been shown to be phosphorylated by MAP kinase in response to c-kit activation, resulting in upregulation of MITF transcriptional activity. Mutations of the MITF gene are associated with the autosomal dominant hereditary deafness and pigmentation condition, Waardenburg Syndrome type 2A. Multiple isoforms of MITF exist, including MITF-A, MITF-B, MITF-C, MITF-H, and MITF-M, which differ in the amino-terminal domain and in their expression patterns. The MITF-M isoform is restricted to the melanocyte cell lineage. Anti-MITF, D5, recognizes a nuclear protein, which is expressed in the majority of primary and metastatic epithelioid malignant melanomas as well as in normal melanocytes, benign nevi and dysplastic nevi.
• Form/Format: 200ug/ml of Ab purified from Bioreactor Concentrate by Protein A/G. Prepared in 10mM PBS with 0.05% BSA & 0.05% azide. Also available WITHOUT BSA & azide at 1.0mg/ml.
• Sequence Length: 419

• Applicable Applications for anti-MITF antibody: Flow Cytometry (FC/FACS), Immunofluorescence (IF), Immunohistochemistry (IHC) Formalin
• Application Notes: Flow Cytometry (0.5-1ug/million cells in 0.1ml); Immunofluorescence (0.5-1ug/ml); Immunohistochemistry (Formalin-fixed) (0.5-1.0ug/ml for 30 minutes at RT) (Staining of formalin-fixed tissues requires boiling tissue sections in 10mM citrate buffer, pH 6.0, for 10-20 min followed by cooling at RT for 20 minutes)
• Cellular Localization: Nuclear
• Immunogen: NH2 terminus fragment of human Mi protein
• Hu-Chromosome Location: 3p14.1
• Positive Control: Jurkat, A-431, HeLa or 501 Mel human melanoma cells or Melanoma
• Preparation and Storage: Antibody with azide - store at 2 to 8 degree C. Antibody without azide - store at -20 to -80 degree C. Antibody is stable for 24 months. Non-hazardous. No MSDS required.

Immunohistochemistry (IHC)

(Formalin-fixed, paraffin-embedded human Melanoma stained with MITF Monoclonal Antibody (D5).)

References

Hemesath P, et. al. MAP kinase links the transcription factor microphthalmia to c-Kit signalling in melanocytes. Nature. 1998, 391:298-301 Weilbaecher KN, et. al. Age-resolving osteopetrosis: a rat model implicating microphthalmia and the related transcription factor TFE3. J. Exp.Med. 1998, 187: 775-78

NCBI and Uniprot Product Information

• NCBI GI #: 4557755
• NCBI GeneID: 4286
• NCBI Accession #: NP_000239.1
• NCBI GenBank Nucleotide #: NM_000248.3
• UniProt Accession #: O75030; Q14841; Q9P2V0; Q9P2V1; Q9P2V2; Q9P2Y8; B4DJL2; D3K197; E9PFN0
• Molecular Weight: 52-56kDa (doublet)
• NCBI Official Full Name: microphthalmia-associated transcription factor isoform 4
• NCBI Official Synonym Full Names: melanogenesis associated transcription factor
• NCBI Official Symbol: MITF
• NCBI Official Synonym Symbols: MI; WS2; CMM8; WS2A; bHLHe32
• NCBI Protein Information: microphthalmia-associated transcription factor
• UniProt Protein Name: Microphthalmia-associated transcription factor
• Protein Family: Microphthalmia-associated transcription factor
• UniProt Gene Name: MITF
• UniProt Synonym Gene Names: BHLHE32; bHLHe32
• UniProt Entry Name: MITF_HUMAN

NCBI Description

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]

Uniprot Description

MITF: a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. Plays a critical role in the differentiation of various cell types including neural crest- derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. Two isoforms are known: the M-isoform is expressed exclusively in melanocytes, while the A-isoform has a much broader range of expression. Mutations in MITF can lead to Waardenburg syndrome. Ten alternatively spliced isoforms have been described.

Protein type: Transcription factor; DNA-binding; Oncoprotein

Chromosomal Location of Human Ortholog: 3p14.2-p14.1

Cellular Component: nucleoplasm; protein complex

Molecular Function: protein binding

Biological Process: melanocyte differentiation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; protein complex assembly; protein sumoylation

Disease: Albinism, Ocular, With Sensorineural Deafness; Melanoma, Cutaneous Malignant, Susceptibility To, 8; Tietz Syndrome; Waardenburg Syndrome, Type 2a