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Anti-MITF (G174) Antibody
品牌:Antibodies
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规格:50µl
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Anti-MITF (G174) Antibody

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Name: Anti-MITF (G174) Antibody
See all MITF primary antibodies
Description: Rabbit polyclonal antibody to MITF (G174)
Specificity: MITF (G174) pAb detects endogenous levels of MITF protein.
Applications: WB, IHC, IF
Reactivity: Human, Mouse, Rat
Immunogen: Synthetic peptide, corresponding to amino acids 141-190 of Human MITF.
Host: Rabbit
Clonality: Polyclonal
Conjugate: Unconjugated
Molecular Weight: ~ 59 kDa
Purity: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
Product Form: 1 mg/ml in Phosphate buffered saline (PBS) with 0.05% sodium azide, approx. pH 7.2.
Function: Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.
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. Isoform Mdel is widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines.
Involvement in Disease: Waardenburg syndrome 2A: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.

Waardenburg syndrome 2, with ocular albinism, autosomal recessive: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.

Tietz albinism-deafness syndrome: An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.

Melanoma, cutaneous malignant 8: 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.
Sequence Similarities: Belongs to the MiT/TFE family.
Post-Translational Modification: Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. Phosphorylated at Ser-180 and Ser-516 following KIT signaling, trigerring a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome.
Cellular Location: Nucleus.
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
  • Synonyms:
  • BHLHE32 Antibody
  • bHLHe32 Antibody
  • Class E basic helix-loop-helix protein 32 Antibody
  • CMM8 Antibody
  • Homolog of mouse microphthalmia Antibody
  • Mi Antibody
  • Microphthalmia associated transcription factor Antibody
  • Microphthalmia, mouse, homolog of Antibody
  • Microphthalmia-associated transcription factor Antibody
  • MiTF Antibody
  • mitfa Antibody
  • MITF_HUMAN Antibody
  • nacre Antibody
  • WS2 Antibody
  • WS2A Antibody
  • z3A.1 Antibody
  • Information: Target information shown above is from the UniProt Consortium.
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