Dec 25, 2024 · MYRF (Myelin Regulatory Factor) is a Protein Coding gene. Diseases associated with MYRF include Cardiac-Urogenital Syndrome and Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization. Among its related pathways is Kallmann syndrome.

MyRF is a transcription factor that promotes the expression of many genes important in the production of myelin. [7] It is therefore of critical importance in the development and maintenance of myelin sheaths. [8] The expression of MYRF is specific to …

The Myelin Regulator Factor (MYRF) is a master regulator governing myelin formation and maintenance in the central nervous system. The conservation of MYRF across metazoans and its broad tissue expression suggest it has functions extending beyond …

该基因编码中枢神经系统髓鞘形成所需的转录因子，并可能调节少突胶质细胞分化。 它被认为通过增加影响髓磷脂生成的基因表达来发挥作用，但也可能直接促进髓磷脂基因表达。 小鼠模型中相似基因的缺失会导致严重的脱髓鞘。 可变剪接导致多个转录本变体。 [RefSeq 提供，2014 年 11 月] This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation.

Feb 8, 2025 · The results suggest that MYRF is a novel causative gene of 46,XY and 46,XX disorders of sex development and MYRF is a transcription factor regulating coelomic epithelium and/or coelomic epithelium derived cells proliferation and migration, which is essential for development of multiple organs.

Jan 21, 2020 · Myrf is a membrane-bound transcription factor that plays a key role in various biological processes. The Intramolecular Chaperone Auto-processing (ICA) domain of Myrf forms a homo-trimer, which...

Aug 13, 2013 · Here we show that Myrf is a membrane-associated transcription factor that undergoes an activating proteolytic cleavage to separate its transmembrane domain-containing C-terminal region from a nuclear-targeted N-terminal region. Unexpectedly, this cleavage event occurs via a protein domain related to the autoproteolytic intramolecular chaperone ...

Jan 4, 2025 · De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. Siggs OM, Souzeau E, Breen J, Qassim A, Zhou T, Dubowsky A, Ruddle JB, Craig JESiggs OM, et al. Mol Vis, 2019.

Apr 17, 2021 · The myelin regulatory factor gene (MYRF) encodes a protein evolutionarily conserved from invertebrates to vertebrates, representing a novel type of membrane-bound transcriptional factor (MBTF). In vertebrates, MYRF protein is required for myelin development and maintenance [1, 2].

Enables DNA binding activity and DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in several processes, including central nervous system myelin maintenance; positive regulation of myelination; and regulation of transcription, DNA-templated. Located in endoplasmic reticulum membrane and nucleus.