Identity
HGNC
LOCATION
15q23
LOCUSID
ALIAS
CLN4A,HsT18960,nclf
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54982
MIM: 606725
HGNC: 2077
Ensembl: ENSG00000128973
Variants:
dbSNP: 54982
ClinVar: 54982
TCGA: ENSG00000128973
COSMIC: CLN6
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38382230 | 2024 | Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families. | 0 |
| 38382230 | 2024 | Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families. | 0 |
| 35012600 | 2022 | Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience. | 3 |
| 35012600 | 2022 | Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience. | 3 |
| 34380921 | 2021 | CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses. | 2 |
| 34597687 | 2021 | p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis. | 1 |
| 34380921 | 2021 | CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses. | 2 |
| 34597687 | 2021 | p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis. | 1 |
| 32171521 | 2020 | Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses. | 2 |
| 32597833 | 2020 | A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. | 25 |
| 32171521 | 2020 | Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses. | 2 |
| 32597833 | 2020 | A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. | 25 |
| 30528883 | 2019 | Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. | 7 |
| 30561534 | 2019 | Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. | 15 |
| 31901039 | 2019 | [Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of CLN6 gene]. | 0 |
Citation
Dessen P
CLN6 (CLN6 transmembrane ER protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61895/cln6-(cln6-transmembrane-er-protein)
