rs1585137545

This variant is located in the CLN8 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Neuronal ceroid lipofuscinosis

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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