MiTF ist ein Gen, das durch das Symbol MITF kodiert wird. Im Allgemeinen auch bezeichnet als: Microphthalmia-associated transcription factor; Class E basic helix-loop-helix protein 32; bHLHe32; BHLHE32. MiTF hat eine Masse von 58.8kDa, eine Aminosäurelänge von 526, und ist an folgenden Krankheiten beteiligt: Waardenburg syndrome 2A; Waardenburg syndrome 2, with ocular albinism, autosomal recessive; Tietz albinism-deafness syndrome; Melanoma, cutaneous malignant 8; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.
Wir bieten 25 antikörper gegen MiTF, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA, ICC/IF, FC, IP and ChIP mit Proben abgeleitet von Human, Maus, Ratte, Huhn, Hund und Xenopus.
Gen- und Proteininformationen
UniProt Zusammenfassung
Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and 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.
Entrez Zusammenfassung
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.
Gewebespezifität
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.
Rolle bei Krankheiten
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.
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness: An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis.
Sequenzähnlichkeiten
Belongs to the MiT/TFE family.
Posttranslationale Modifikation
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.
