CLN8 CLN8 transmembrane ER and ERGIC protein
Gene ID: 2055, updated on 5-Mar-2024Gene type: protein coding
Also known as: EPMR; TLCD6; C8orf61
- See all available tests in GTR for this gene
- Go to complete Gene record for CLN8
- Go to Variation Viewer for CLN8 variants
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. [provided by RefSeq, Jul 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. GeneReviews: Not available | |
| Neuronal ceroid lipofuscinosis 8 | See labs |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | See labs |
Genomic context
- Location:
- 8p23.3
- Sequence:
- Chromosome: 8; NC_000008.11 (1753059..1786570)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CLN8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CLN8 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- Neuronal Ceroid Lipofuscinoses; NCL Mutations
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.