gliomedin
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomallethal congenital contracture syndrome 11
lethal congenital contracture syndrome
fetal akinesia deformation sequence 1
Polyhydramnios
hereditary disease
Multiple joint contractures
diabetic neuropathy
multiple sclerosis
fetal akinesia deformation sequence
osteoarthritis, knee
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Gliomedin
Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with NRCAM, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier
GLDN · Q6ZMI3
Mean pLDDT
72.7/ 100
Confident
551 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
