CLN6
entrez
54982
canonical
uniprot
Q9NWW5
canonical
ensembl
ENSG00000128973
resolver
ensp
ENSP00000249806
resolver
ensp
ENSP00000445770
resolver
genesymbol
CLN6
resolver
hgnc
HGNC:2077
resolver
uniprot
A0A024R601
resolver
uniprot
A8K560
resolver
uniprot
B4DDH6
resolver
uniprot
Q6IAB1
resolver
uniprot
Q96SR0
resolver
uniprot_entry
A0A024R601_HUMAN
resolver
uniprot_entry
CLN6_HUMAN
resolver
uniprot_sec
A8K560
resolver
uniprot_sec
B4DDH6
resolver
uniprot_sec
Q6IAB1
resolver
uniprot_sec
Q96SR0
resolver
amino_acid_sequence
MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPWAFYTLHVSSRH
uniprot
proteins
disease_involvement
DISEASE: Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]: An autosomal recessive form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. {ECO:0000269|PubMed:11727201, ECO:0000269|PubMed:11791207, ECO:0000269|PubMed:12673792, ECO:0000269|PubMed:12815591, ECO:0000269|PubMed:19201763, ECO:0000269|PubMed:20430023, ECO:0000269|PubMed:21990111, ECO:0000269|Ref.2}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive (CLN4A) [MIM:204300]: An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy. {ECO:0000269|PubMed:21549341}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
35919
uniprot
proteins
pubmed
11727201
uniprot
proteins
pubmed
11791207
uniprot
proteins
pubmed
12673792
uniprot
proteins
pubmed
12815591
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15265688
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17237713
uniprot
proteins
pubmed
19201763
uniprot
proteins
pubmed
19235893
uniprot
proteins
pubmed
19941651
uniprot
proteins
pubmed
20430023
uniprot
proteins
pubmed
21549341
uniprot
proteins
pubmed
21990111
uniprot
proteins
pubmed
27535533
uniprot
proteins
sequence_length
311
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15265688}; Multi-pass membrane protein {ECO:0000269|PubMed:15265688}. Endoplasmic reticulum {ECO:0000269|PubMed:19941651}.
uniprot
proteins
transmembrane_region
TRANSMEM 56..76; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 81..101; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 111..131; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 179..199; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 204..224; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 225..245; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 260..280; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins