sorting nexin 27
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalDravet syndrome
Global developmental delay
Intellectual disability
Generalized hypotonia
Seizure
atopic eczema
hereditary disease
hepatocellular carcinoma
Down syndrome
nerve plexus disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Sorting nexin-27
Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early endosomes and recycled to the plasma membrane instead of being degraded in lysosomes. SNX27 specifically binds and directs sorting of a subset of transmembrane proteins containing a PDZ-binding motif at the C-terminus: following interaction with target transmembrane proteins, associates with the retromer complex, preventing entry into the lysosomal pathway, and promotes retromer-tubule based plasma membrane recycling. SNX27 also binds with the WASH complex. Interacts with membranes containing phosphatidylinositol-3-phosphate (PtdIns(3P)). May participate in establishment of natural killer cell polarity. Recruits CYTIP to early endosomes
SNX27 · Q96L92
Mean pLDDT
83.6/ 100
Confident
541 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
