DOORS
Chr 16ARTBC1 domain family member 24
Also known as: DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME
This gene encodes a TBC domain-containing protein that functions as a GTPase-activating protein for Rab small GTPases, which regulate membrane trafficking in cells. Mutations cause DOORS syndrome, a multisystem disorder affecting hearing, vision, skeletal development, and intellectual development. The condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DOORS?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in 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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Natural History Study of Patients With VCP-related Disease
ACTIVE NOT RECRUITINGFunctional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy
RECRUITINGDose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa
ACTIVE NOT RECRUITINGLinezolid Plus Standard of Care
RECRUITINGEaRly impAct theraPy With Ceftazidime-avibactam Via rapID Diagnostics
RECRUITINGA Prospective Cohort Study on the Effect of Spinal Spinal Cord Injury on Sexual Function in Male Patients
ACTIVE NOT RECRUITINGCervical Spondylotic Myelopathy Surgical Trial
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools