Gene: CLN8

Alternate names for this Gene: C8orf61|EPMR|TLCD6

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.3

Description of this Gene: CLN8 transmembrane ER and ERGIC protein

Type of Gene: protein-coding

rs104894060 in CLN8 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 8 PMID 19807737 2010 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

PMID 26443629 2016 Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

PMID 19431184 2009 A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

PMID 15160397 2004 Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

PMID 15024724 2004 Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

PMID 16570191 2006 Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

PMID 10861296 2000 The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.

PMID 26075876 2015 Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

PMID 22220808 2012 Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.

PMID 28116333 2017 CLN8 disease caused by large genomic deletions.

PMID 16828266 2006 Molecular genetics of the NCLs -- status and perspectives.

rs34030778 in CLN8 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

rs1366421988 in CLN8 gene and Dysmorphic features PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

rs11986414 in CLN8 gene and Gaucher Disease PMID 22388998 2012 Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

rs10097891 in CLN8 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs386834124 in CLN8 gene and Movement Disorders PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

rs1366421988 in CLN8 gene and Muscle hypotonia PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

rs104894060 in CLN8 gene and Neuronal Ceroid-Lipofuscinoses PMID 19807737 2010 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

PMID 23374165 2013 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 15024724 2004 Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

PMID 15160397 2004 Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

PMID 10861296 2000 The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.

rs104894064 in CLN8 gene and Northern epilepsy syndrome PMID 10508524 1999 EPMR patients were homozygous for a missense mutation (70C-->G, R24G) that was not found in homozygosity in 433 controls.We also cloned the mouse Cln8 sequence.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

rs4875958 in CLN8 gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

rs34030778 in CLN8 gene and response to simvastatin PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.