Gene Symbol |
HEG1
|
Entrez Gene |
57493
|
Alt Symbol |
HEG, MST112, MSTP112
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
heart development protein with EGF-like domains 1
|
Other Description |
HEG homolog 1|heart of glass|protein HEG homolog 1
|
Swissprots |
Q6NX66 Q8NC40 Q9BSV0 Q9ULI3
|
Accessions |
CCF76989 CCQ43642 Q9ULI3 AB033063 BAA86551 AF173887 AAQ13634 AK074987 BAC11336 BC004539 AAH04539 BC014053 BC047661 BC067235 AAH67235 DR003209 XM_005247666 XP_005247723 NM_020733 NP_065784
|
Function |
Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions. {ECO:0000250}.
|
Subcellular Location |
Isoform 1: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction {ECO:0000250}.
|