rs150754288
This variant is located in the APELA gene.
▶ClinVar annotation
Likely Benign★★★☆
2 submitters2 publicationsAbout APELA
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]
View all APELA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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