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DOORS

Chr 16AR

TBC1 domain family member 24

Also known as: DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME

NCBI Gene: 57465OMIM: 220500

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]

GeneReviewsOMIMResearchGenerating clinical summary…
AR1 OMIM phenotype
Clinical Summary— DOORS
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Clinical Trials
7 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
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GeneReview available — DOORS
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DOORS?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DOORS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Blood Stream InfectionsVentilator Associated PneumoniaHealthcare Associated Infection

EaRly impAct theraPy With Ceftazidime-avibactam Via rapID Diagnostics

RECRUITING
NCT05979545Phase PHASE4National University of SingaporeStarted 2023-12-12
Rapid Diagnostics
Sexual Function AbnormalSpinal Cord Injuries (SCI)

A Prospective Cohort Study on the Effect of Spinal Spinal Cord Injury on Sexual Function in Male Patients

ACTIVE NOT RECRUITING
NCT07093827Peking University Third HospitalStarted 2020-01-01
Posterior decompression surgeryunilateral open-door laminoplastyPosterior lumbar discectomy with fusion
Pneumonia - Bacterial

Impact of BioFire FilmArray Pneumonia Panel vs Routine Diagnostics on Antimicrobial Outcomes (DOOR-MAT)

NOT YET RECRUITING
NCT07585604Phase NAHospital de Clinicas de Porto AlegreStarted 2026-05-02
Multiplex PCR-based pneumonia panel (BIOFIRE® FILMARRAY® Pneumonia Panel)
Atypical Hemolytic Uremic Syndrome

Functional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy

RECRUITING
NCT05805202Phase NAMario Negri Institute for Pharmacological ResearchStarted 2023-05-03
Blood sampling and urine analysis
Non-syndromic Retinitis Pigmentosa

Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa

ACTIVE NOT RECRUITING
NCT03326336Phase PHASE1, PHASE2GenSight BiologicsStarted 2018-09-26
Gene therapy: GS030-DP AND Medical device: GS030-MD
Staphylococcus Aureus Bloodstream Infections (BSI; Bacteremia)

Linezolid Plus Standard of Care

RECRUITING
NCT06958835Phase NAUniversity Hospital, Basel, SwitzerlandStarted 2025-10-06
Linezolid 600 mgPlacebo
Cervical Spondylosis With Myelopathy

Cervical Spondylotic Myelopathy Surgical Trial

ACTIVE NOT RECRUITING
NCT02076113Phase NALahey ClinicStarted 2014-04-01
Ventral (Front) decompression with FusionDorsal (Back) Decompression with FusionDorsal (back) Laminoplasty

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients