Ceroid-lipofuscinosis, neuronal 6, late infantile, variant [Homo sapie - Protein

Run BLAST
Find regions of similarity between this sequence and other sequences using BLAST.
Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.

Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families. [Epilepsy Res. 2024]
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
Ilyas M, Tariq F, Ishaq R, Habiba U, Bibi F, Khan SN, Ali Y, Haider S, Efthymiou S, Abdullah U, et al. Epilepsy Res. 2024 Mar; 201:107283. Epub 2023 Dec 17.
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience. [Orphanet J Rare Dis. 2022]
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R, Echeverri-McCandless A, Weimer JM, Ulate-Campos A, Soto-Rodríguez A, Gutiérrez-Mata A, Hernández-Con L, Bogantes-Ledezma S, Balmaceda-Meza A, Brudvig J, et al. Orphanet J Rare Dis. 2022 Jan 10; 17(1):13. Epub 2022 Jan 10.
p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis. [Clin Chim Acta. 2021]
p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis.
Onodera M, Tsujimoto S, Doi S, Yamashita A, Yamazaki T, Makifuchi T, Inazu T. Clin Chim Acta. 2021 Dec; 523:191-195. Epub 2021 Sep 28.

RefSeq protein isoforms
See 2 reference sequence protein isoforms for the CLN6 gene.

Nucleotide
Nucleotide sequence from coding region
PubMed
PubMed articles cited by protein sequence record
Taxonomy
Taxonomy sequences associated with protein record
Order cDNA Clone
Nucleotide NIH cDNA clone
BioSystems
BioSystems
CDD Search Results
Display conserved domains within a protein
Conserved Domains (Concise)
Link to a concise list of conserved domains in a protein
Conserved Domains (Full)
Link to conserved domains within a protein
Domain Relatives
Display proteins with similar conserved domain architecture
Encoding mRNA
Link from protein to encoding mRNA
Full text in PMC
Free full text articles in PMC
Gene
Link to related Genes
Order cDNA clone
Order cDNA clone
PubMed (Weighted)
Links to pubmed

glycosyltransferase family 4 protein [Streptococcus pyogenes]
glycosyltransferase family 4 protein [Streptococcus pyogenes]
gi|2734140645|ref|WP_346390268.1|

Protein
Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA
Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA
gi|568815599|ref|NM_001079514.2|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Protein