reelin
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalCerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMalformations of cortical development
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal+8 more panels — install the extension to see the full list inline on any page.
Norman-Roberts syndrome
familial temporal lobe epilepsy 7
Lissencephaly syndrome, Norman-Roberts type
temporal lobe epilepsy
autosomal dominant epilepsy with auditory features
Rolandic epilepsy
self-limited epilepsy with centrotemporal spikes
Abnormality of the skeletal system
Lissencephaly
hereditary disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Reelin
Extracellular matrix serine protease secreted by pioneer neurons that plays a role in layering of neurons in the cerebral cortex and cerebellum by coordinating cell positioning during neurodevelopment. Regulates microtubule function in neurons and neuronal migration. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion
RELN · P78509
Mean pLDDT
Not published
AlphaFold has not published a prediction for this sequence. This is common for very long proteins.
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
