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SNF8

SNF8 subunit of ESCRT-II
2 disorders 2 causative 17q21.32 gene with protein product
HGNC:17028MonarchNCBI Gene 11267ENSG00000159210UniProt Q96H20OMIM 610904

Aliases: EAP30, VPS22, Dot3.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Genetic Developmental and Epileptic Encephalopathy causative
mechanism: Genetic Lesion Beyond the Channelopathies
subtype: DEE115
scoped to subtype: DEE115
SNF8-Related Neurodevelopmental Disorder causative
mechanism: Bi-allelic Hypomorphic SNF8 Variants; Loss of the ESCRT-II Complex; Stability-Independent Impairment by the p.Val102Ile Hypomorph

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.