rs777453297
This variant is located in the CLN8 gene.
▶ClinVar annotation
not provided; Neuronal ceroid lipofuscinosis; Inborn genetic diseases
View on ClinVar →About CLN8
This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]
View all CLN8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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