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DEE16
Chr 16TBC1 domain family member 24
Also known as: DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME
This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DEE16?content-type=application/json&expand=1
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DEE16 · protein map & ClinVar variants
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External Resources
Links to major genomics databases and tools
Clinical Trials
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