plexin A1
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Diagnostic Grade (Green)
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDworschak-Punetha neurodevelopmental syndrome
developmental and epileptic encephalopathy
genetic developmental and epileptic encephalopathy
neurodevelopmental disorder
skin aging
complex neurodevelopmental disorder
placental retention
ovarian dysfunction
Apnea
preeclampsia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Plexin-A1
Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm. Acts as coreceptor of TREM2 for SEMA6D in dendritic cells and is involved in the generation of immune responses and skeletal homeostasis
Curated MONDO disease pages that list PLXNA1 among their top associated genes.
PLXNA1 · Q9UIW2
Mean pLDDT
84.9/ 100
Confident
1,896 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
