melanocyte inducing transcription factor
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L MITF gene provides instructions for making a protein called melanocyte inducing transcription factor. This protein plays a role in the development, survival, and function of certain types of cells. To carry out this role, the protein attaches to specific areas of DNA and helps control the activity of particular genes. On the basis of this action, the protein is called a transcription factor.
Normal function
L MITF gene provides instructions for making a protein called melanocyte inducing transcription factor. This protein plays a role in the development, survival, and function of certain types of cells. To carry out this role, the protein attaches to specific areas of DNA and helps control the activity of particular genes. On the basis of this action, the protein is called a transcription factor.
Melanocyte inducing transcription factor helps control the development and function of pigment-producing cells called melanocytes. Within these cells, this protein controls production of the pigment melanin, which contributes to hair, eye, and skin colour. Melanocytes are also found in the inner ear and play an important role in hearing. Additionally, melanocyte inducing transcription factor regulates the development of specialized cells in the eye called retinal pigment epithelial cells. These cells nourish the retina, the part of the eye that detects light and colour. Some research indicates that melanocyte inducing transcription factor also regulates the development of cells that break down and remove bone (osteoclasts) and cells that play a role in allergic reactions (mast cells).
The structure of melanocyte inducing transcription factor includes three critically important regions. Two of the regions, called the helix-loop-helix motif and the leucine-zipper motif, are critical for protein interactions. These motifs allow molecules of melanocyte inducing transcription factor to interact with each other or with other proteins that have a similar structure, creating a two-protein unit (dimer) that functions as a transcription factor. The other region, known as the basic motif, binds to specific areas of DNA, allowing the dimer to control gene activity.
Conditions referring to this gene or chromosome
Altri nomi
homolog of mouse microphthalmia
melanogenesis associated transcription factor
microphthalmia-associated transcription factor
MITF_HUMAN
WS2A
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Ulteriori letture e riferimenti
- melanocyte inducing transcription factor; MedlinePlus, National Library of Medicine.
- Centeno PP, Pavet V, Marais R. The journey from melanocytes to melanoma. Nat Rev Cancer. 2023 Jun;23(6):372-390. doi: 10.1038/s41568-023-00565-7. Epub 2023 Apr 24.
- George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. doi: 10.1016/j.ajhg.2016.11.004. Epub 2016 Nov 23.
- Grill C, Bergsteinsdottir K, Ogmundsdottir MH, Pogenberg V, Schepsky A, Wilmanns M, Pingault V, Steingrimsson E. MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. Hum Mol Genet. 2013 Nov 1;22(21):4357-67. doi: 10.1093/hmg/ddt285. Epub 2013 Jun 20.
- Gudmundsdottir DH, de Lomana ALG, Venkatesh TB, Kirty K, Sigurdsson S, Vidarsdottir L, Dilshat R, Sveinbjornsdottir E, Ragnarsdottir S, Magnusson DH, Bustos MR, Steingrimsson E, Gudjonsson T, Sigurdsson S. MITF maintains genome stability in nonmelanocyte lineages. Mol Oncol. 2026 Jun 10:10.1002/1878-0261.70273. doi: 10.1002/1878-0261.70273. Online ahead of print.
- Hida T, Kamiya T, Kawakami A, Ogino J, Sohma H, Uhara H, Jimbow K. Elucidation of Melanogenesis Cascade for Identifying Pathophysiology and Therapeutic Approach of Pigmentary Disorders and Melanoma. Int J Mol Sci. 2020 Aug 25;21(17):6129. doi: 10.3390/ijms21176129.
- Izumi K, Kohta T, Kimura Y, Ishida S, Takahashi T, Ishiko A, Kosaki K. Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. Clin Genet. 2008 Jul;74(1):93-5. doi: 10.1111/j.1399-0004.2008.01010.x. Epub 2008 May 28. No abstract available.
- Leger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V. Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. Eur J Hum Genet. 2012 May;20(5):584-7. doi: 10.1038/ejhg.2011.234. Epub 2012 Jan 18.
- Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet. 2000 Jul;107(1):1-6. doi: 10.1007/s004390000328.
- Tachibana M. Cochlear melanocytes and MITF signaling. J Investig Dermatol Symp Proc. 2001 Nov;6(1):95-8. doi: 10.1046/j.0022-202x.2001.00017.x.
- Tachibana M. MITF: a stream flowing for pigment cells. Pigment Cell Res. 2000 Aug;13(4):230-40. doi: 10.1034/j.1600-0749.2000.130404.x.
- Widlund HR, Fisher DE. Microphthalamia-associated transcription factor: a critical regulator of pigment cell development and survival. Oncogene. 2003 May 19;22(20):3035-41. doi: 10.1038/sj.onc.1206443.
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