The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternatively spliced transcripts encoding different isoforms have been described for this gene.
Human Myelin-Associated Glycoprotein,also known as MAG, Siglec-4,is a cell membrane glycoprotein that is a member of the SIGLEC family of proteins.MAG contains 4 Ig-like C2-type domains and 1 Ig-like V-type domain.MAG functions as an adhesion molecule during neural development. MAG is believed to be involved in myelination during nerve regeneration. it is a adhesion molecule in postnatal neural development that mediates sialic-acid dependent cell-cell interactions between neuronal and myelinating cells and Preferentially binds to alpha-2,3-linked sialic acid. Soluble MAG, which is released from myelin in large quantities, has been identified in normal human tissues and in tissues from patients with neurological disorders. It is believed that this soluble MAG might contribute to the lack of CNS neuron regeneration after injury.
Endoplasmic Reticulum Mannosyl-Oligosaccharide 1,2-α-Mannosidase (MAN1B1) belongs to the glycosyl hydrolase 47 family. MAB1B1 is a single-pass type II membrane protein and widely expressed in many tissues. MAB1B1 is involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. MAB1B1 can be inhibited by both 1-deoxymannojirimycin (dMNJ) and kifunensine. Defects in MAN1B1 are the cause of mental retardation autosomal recessive type 15 (MRT15). Mental retardation is characterized by significantly below average general intellectual functioning, it is also associated with impairments in adaptative behavior and manifested during the developmental period.
Inserisci la tua e-mail e seleziona le aree di interesse per ricevere le ultime novità, approfondimenti e promozioni.
Seleziona uno o più ambiti di interesse per ricevere comunicazioni più utili e mirate.
2025 TEMA Ricerca - All Rights Reserved.
