CELSR1
Function
Receptor that may have an important role in cell/cell signaling during nervous system formation.
Involvement in disease
Neural tube defects
NTD
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
None
The disease may be caused by variants affecting the gene represented in this entry.
Lymphatic malformation 9
LMPHM9
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM9 is an autosomal dominant form with variable expressivity and incomplete penetrance, characterized by the onset of lower-extremity lymphedema in the first decades of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
Sequence Similarities
Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
CDHF9, FMI2, CELSR1, Cadherin EGF LAG seven-pass G-type receptor 1, Cadherin family member 9, Flamingo homolog 2, hFmi2