| Type | Description |
|---|---|
| Definition | CLN6 transmembrane ER protein |
| Date | Results | Publications |
|---|---|---|
| 2020-12-12 13:26:00 | Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses. | 32171521 |
| 2020-07-13 07:31:00 | The CLN6 protein associates with the CLN8 protein to form the EGRESS complex (ER-to-Golgi Relaying of Enzymes of the lySosomal System), which mediates ER exit and Golgi transfer of newly synthesized lysosomal enzymes. The second luminal loop of CLN6 is required for the interaction of CLN6 with the enzymes. Loss-of-function mutations in CLN6 affect enzyme trafficking and result in lower levels of enzymes at the lysosome. | 32597833 |
| 2020-01-11 10:54:00 | compound heterozygous mutations of CLN6:c.486+2T>C and c.486+4A>T are possibly the genetic causes of the autosomal recessive neuronal ceroid lipofuscinoses | 31901039 |
| 2019-08-24 12:09:00 | Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor disturbance) Kufs disease was supported by molecular diagnoses. Type A is usually caused by recessive pathogenic variants in CLN6 or dominant variants in DNAJC5. Type B Kufs is usually associated with recessive CTSF pathogenic variants. | 30561534 |
| 2019-08-10 10:18:00 | Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment | 30528883 |
| Type | IDs |
|---|---|
| Synonymous | CLN4A, HsT18960, nclf |
| Gene |
UniProtKB-ID:
CLN6_HUMAN,
A0A024R601_HUMAN
UniprotKB:
Q9NWW5,
A0A024R601
UniParc:
UPI00017A6CF4,
UPI000006D91F
EMBL:
AC107871,
BC013130,
BC010849,
CH471082,
AK000568,
KU178671,
AK027604,
AK293197,
AK291175,
CR457244
Ensembl:
ENSG00000128973
KO:
hsa:54982
|
| Nucleutide sequences |
EMBL-CDS:
CAG33525.1,
BAA91260.1,
EAW77811.1,
AAH10849.1,
BAF83864.1,
BAG56737.1,
BAB55226.1,
AAH13130.1,
ALQ34129.1,
EAW77813.1
Gene_ORFName:
hCG_23813
Ensembl_TRS:
ENST00000249806,
ENST00000538696
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000445770,
ENSP00000249806
RefSeq:
NP_060352.1
|
| Others |
UniRef100:
UniRef100_Q9NWW5
UniRef90:
UniRef90_Q9NWW5
UniRef50:
UniRef50_Q9NWW5
UniGene:
Hs.584921
CCDS:
CCDS10227.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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