The tmem117 gene encodes a transmembrane protein localized to the endoplasmic reticulum membrane and nuclear envelope. Expression is detected in the developing brain, including the telencephalon, dienc...[+]

The tmem117 gene encodes a transmembrane protein localized to the endoplasmic reticulum membrane and nuclear envelope. Expression is detected in the developing brain, including the telencephalon, diencephalon, midbrain, and hindbrain, as well as in the spinal cord, cranial ganglia, eye, otic vesicle, branchial arches, pronephros, and limb buds during embryogenesis. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD