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Microphthalmia Transcription Factor (MITF)

Product Specifications

Gene Name

[MITF]

NCBI Gene ID

4286

Reactivity

Human, Dog.<br>Does not react with mouse, rat. Others not tested.

Storage Conditions

Antibody with azide - store at 2 to 8 degree C.<br>Antibody without azide - store at -20 to -80 degree C.<br>Antibody is stable for 24 months. Non-hazardous. No MSDS required.

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. This MAb 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.

Other Gene Names

[MITF; MITF; MI; WS2; CMM8; WS2A; COMMAD; bHLHe32; BHLHE32; bHLHe32]

Short Name

[Microphthalmia Transcription Factor (MITF)]

Other Product Names

[microphthalmia-associated transcription factor isoform 4; Microphthalmia-associated transcription factor; microphthalmia-associated transcription factor; melanocyte inducing transcription factor; Class E basic helix-loop-helix protein 32; bHLHe32]

NCBI GI Number

4557755

NCBI Accession Number

NP_000239.1

NCBI GB Accession Number

NM_000248.3

Uniprot Accession Number

O75030

Available Sizes

Curated Selection

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