DISEASES

Disease-gene associations mined from literature

Literature associating MBP and hypomyelinating leukodystrophy 2

MBP [ENSP00000380958]

Myelin basic protein; The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non-classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T-cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation. ; Belongs to the myelin basic protein family.

Synonyms:  MBP,  A0A024R384,  A8MZH3,  C9J6H1,  E9PJ72 ...

Linkouts:  STRING  Pharos  UniProt