Ask about this productRelated genes to: MITF antibody
- Gene:
- MITF NIH gene
- Name:
- melanocyte inducing transcription factor
- Previous symbol:
- WS2A, WS2
- Synonyms:
- MI, bHLHe32
- Chromosome:
- 3p13
- Locus Type:
- gene with protein product
- Date approved:
- 1993-10-27
- Date modifiied:
- 2019-04-23
Related products to: MITF antibody
Related articles to: MITF antibody
- Abnormal skin pigmentation is one of the most common skin conditions worldwide. The search for safe, effective, and well-tolerated skin-whitening agents remains a major challenge for the pharmaceutical and cosmetics industries. Glabridin (Gla), often referred to as the "whitening gold", is widely recognized as one of the most potent natural skin-whitening ingredients. However, its low bioavailability, poor skin permeability, and poor stability severely limit its efficacy in conventional topical formulations. Various studies have shown that glycyrrhizic acid (GA), as a drug carrier, can significantly improve the solubility, stability, and bioavailability of poorly soluble drugs, and the nanoparticles made from it have great potential. In this study, we propose using GA to encapsulate Gla, employing a "combined excipient and active ingredient" approach to improve the solubility, water dispersibility, and stability of Gla, thereby enhancing its transdermal delivery efficiency. After encapsulation, the size of the micelles was only about 37 nm, the encapsulation efficiency reached up to 80%, and the cumulative penetration over 48 h reached 7.44 μg/cm. The micelles also inhibit melanin production and reduce tyrosinase activity. Compared with a simple physical mixed solution or using Gla alone, high-concentration micelles reduced the expression of tyrosinase (TYR) to 0.2, tyrosinase-related protein-1 (TRP-1) to 0.6, and tyrosinase-related protein-2 (TRP-2) to 0.3. At the same time, they downregulated the expression of α-melanocyte-stimulating hormone (α-MSH), cyclic adenosine monophosphate (cAMP), and microphthalmia-associated transcription factor (MITF); and downregulated the Brain and Muscle ARNT-Like 1 (BMAL1) expression whilst upregulating the Period Circadian Regulator 1 (PER1) expression. This study demonstrates that GA-Gla micelles exert a synergistic effect by simultaneously targeting classical skin-whitening pathways and circadian regulatory networks, indicating great potential for skin whitening and providing a new strategy for developing novel, highly effective skin-whitening agents. - Source: PubMed
Publication date: 2026/10/01
Ni LehuanLuo MingLiu JiaxinZeng MinghuiZeng LijuanJenis JanarJi HaoXia HonglinLuo ShilinYan YongtaoChen YaLiu LiWu YugeFeng YongshiLi JiansenPeng YiquanZhu HongxiaWang ZhuxianLiu Qiang - We previously discovered that a variant p.R528W in , encoding a mitochondrial membrane-anchored protein, causes a human neurological syndrome. While mutations induce aberrant lysosomal expansion accompanied by undigested material in the lysosomes, how mutant disrupts lysosomal homeostasis and whether this contributes to neurodevelopmental defects remain unknown. Here we show that pathogenic ATAD3A p.R528W expression disrupts the mTORC1-TFEB axis as revealed by dysregulation of mTORC1 substrate phosphorylation, TFEB nuclear localization, and CLEAR gene activation associated with lysosomal biogenesis. ATAD3A binds to lysosome-localized Rag C/D GTPases, which constitute a platform for TFEB recruitment, with pathogenic variants increasing this association and thereby decreasing lysosomal localization of Rag GTPases. Importantly, overexpression of or restores TFEB phosphorylation in human cells expressing p.R528W, and overexpression or knockdown rescues lysosomal expansion and neurodevelopmental defects in . These data indicate that disrupted Rag GTPase recruitment to lysosomes and subsequent aberrant TFEB/Mitf activation contribute to neurodevelopmental and lysosomal phenotypes caused by pathogenic mutations in . Our work reveals a novel role for the mitochondrial resident protein ATAD3A in modulating lysosomal homeostasis through regulation of the mTORC1-TFEB axis, providing a mechanistic link between impaired mitochondrial and lysosomal homeostasis in a neurodevelopmental disorder. - Source: PubMed
Publication date: 2026/09/25
McDougal Mathew BSandoval AbigailKinter MikeJain AntrixLee SukyeongJung Sung YunYoon Wan Hee - Several activating mutations and gene fusions involving the mitogen-activated protein kinase (MAPK) pathway have appeared in the literature regarding histiocytic neoplasms. We identified a GAB2::BRAF fusion in a cutaneous lesion of a 36-year-old male who developed central diabetes insipidus and reddish-pink grouped papules on the bilateral axillary rims, inguinal region, and periocular skin. Skin biopsy obtained from an axillary lesion showed a CD68+, S100-, and CD1a- histiocytic proliferation with foamy histiocytes and multinucleated Touton giant cells, compatible with xanthogranuloma. Next-generation sequencing identified a GAB2::BRAF fusion involving Exon 2 of GAB2 and Exon 10 of BRAF. Our case further highlights this novel fusion in the MAPK signaling pathway as a possible driver of nonLangerhans cell histiocytosis (NLCH) and underscores the utility of performing molecular studies on skin biopsy specimens with NLCH to help identify potential targets for therapy. - Source: PubMed
Publication date: 2026/09/30
Xu Pauline CCushman-Vokoun Allison MD'Angelo Christopher RPradhan Dinesh - Melanocyte homeostasis is highly dependent on mitochondrial function and redox balance, while oxidative stress and mitochondrial dysfunction are considered key pathogenic factors in vitiligo. However, the upstream regulatory mechanisms remain incompletely understood. In this study, we investigated the roles of histidine triad nucleotide-binding protein 1 (HINT1) and armadillo repeat-containing protein 10 (ARMC10) in melanogenesis and their potential mechanisms in vitiligo. Clinical sample analysis revealed that the expression levels of HINT1 and ARMC10 were significantly altered in lesional skin of vitiligo patients compared with normal controls. In vitro, knockdown of HINT1 or ARMC10 in B16 cells markedly affected melanin production, as evidenced by changes in melanin content, tyrosinase activity, and the expression of melanogenesis-related genes including MITF, TYR, TRP-1, and TRP-2. HINT1 or ARMC10 deficiency was associated with increased mitochondrial reactive oxygen species (ROS) accumulation and impaired mitochondrial membrane potential, indicating mitochondrial dysfunction. Furthermore, transmission electron microscopy and protein analysis suggested the involvement of mitochondrial quality control processes. Transcriptomic analysis further supported the enrichment of oxidative stress- and mitochondrial-related pathways. In vivo, knockdown of HINT1 or ARMC10 affected depigmentation and melanogenesis-related markers in a vitiligo mouse model. In conclusion, our findings suggest that HINT1 and ARMC10 are involved in the regulation of melanogenesis and are associated with oxidative stress and mitochondrial dysfunction in melanocytes. - Source: PubMed
Publication date: 2026/09/29
Peng GuanglingShi MengcenWang RuiyaoChen YangmeiOu YiChen Jin - Microphthalmia-associated transcription factor (MITF) is a master regulator of mast cell (MC) differentiation and effector function and is essential for anaphylaxis (severe allergic reactions). Although MITF has been linked to mitochondrial regulation through pyruvate dehydrogenase, whether it broadly controls mitochondrial fitness and metabolic programs that exacerbate MC activation remains unclear. - Source: PubMed
Publication date: 2026/09/28
Ollé LaiaBarrios MónicaSong LihongCarreras-Kàtcheff SofiaMir-Ihara PatriciaValls-Roca LauraGuitart-Mampel MarionaGarrabou GlòriaGarcía CarmenFernandez-Checa Jose CBabina MagdaMuñoz-Cano RosaMartín Margarita