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Article

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.

Human molecular genetics - 1 Jul 2000

Lonka L, Kyttälä A, Ranta S, Jalanko A, Lehesjoki A E

Abstract excerpt

Progressive epilepsy with mental retardation (EPMR) is a new member of the neuronal ceroid lipofuscinoses (NCLs). The CLN8 gene underlying EPMR was recently identified. It encodes a novel 286 amino acid transmembrane protein that contains an endoplasmic reticulum (ER)-retrieval signal (KKRP) in its C-terminus. A homozygous mutation in the orthologous mouse gene (Cln8) underlies the phenotype of a naturally...

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Source

Identifiers

PMID: 10861296
DOI: 10.1093/hmg/9.11.1691

Genes

CLN8
NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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