Myelin regulatory factor, N-terminal
The nuclear localization signals mediate translocation to the nucleus.
Myelin regulatory factor
The peptidase S74 domain, also named Intramolecular Chaperone Auto-processed (ICA) domain or Intramolecular Chaperone Domain (ICD), has protease activity and mediates autocatalytic processing of the protein to generate the Myelin regulatory factor, N-terminal active transcription factor and the Myelin regulatory factor, C-terminal components.
Myelin regulatory factor
Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes (PubMed:23966832).
Myelin regulatory factor, C-terminal
Membrane-bound part that has no transcription factor activity and remains attached to the endoplasmic reticulum membrane following cleavage.
Myelin regulatory factor, N-terminal
Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG, DUSP15 and PLP1 during oligodendrocyte (OL) maturation, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Specifically recognizes and binds DNA sequence 5'-CTGGYAC-3' in the regulatory regions of myelin-specific genes and directly activates their expression. Not only required during oligodendrocyte differentiation but is also required on an ongoing basis for the maintenance of expression of myelin genes and for the maintenance of a mature, viable oligodendrocyte phenotype (PubMed:23966832).
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
MMERV
An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness.
None
The disease may be caused by variants affecting the gene represented in this entry.
Cardiac-urogenital syndrome
CUGS
An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism.
None
The disease is caused by variants affecting the gene represented in this entry.
Myelin regulatory factor, C-terminal
Glycosylated.
Myelin regulatory factor
Follows autocatalytic cleavage via the peptidase S74 domain. Autoprocessing is apparently constitutive and is essential for transcriptional activity (PubMed:23966832). Autocatalytic cleavage is inhibited by interaction with TMEM98 (By similarity).
Belongs to the MRF family.
Expressed in lung, ARPE-19 cell line, brainstem, uterus and, to a lesser extent, in basal ganglion and liver. Weakly expressed in cerebellum and retina.
C11orf9, KIAA0954, MRF, MYRF, Myelin regulatory factor, Myelin gene regulatory factor
Proteins
Neuroscience
124397Da
We found 1 product in 1 category