APELA
Chr 4apelin receptor early endogenous ligand
Also known as: ELA, Ende, tdl
This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016]
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
APELA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapy
RECRUITINGStudy for the Treatment for CLN7 Disease
ACTIVE NOT RECRUITINGMaternal Methyl-Nutrient Status and Infant Neurodevelopment Study
RECRUITINGCP-EDIT: Cerebral Palsy - Early Diagnosis and Intervention Trial
RECRUITINGHome-based Transcranial Direct Current Stimulation in Postpartum Depression: the Feasibility Study and Pilot Study
NOT YET RECRUITINGSafety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
NOT YET RECRUITINGPhase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
RECRUITINGSafety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency
ACTIVE NOT RECRUITINGAn Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
RECRUITINGA Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
ACTIVE NOT RECRUITINGPhase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
ACTIVE NOT RECRUITINGRGX-121-3102 Gene Therapy in Participants With MPS II (Hunter Syndrome)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools