| Type | Description |
|---|---|
| Definition | megalencephalic leukoencephalopathy with subcortical cysts 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:33:00 | Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes. | 32521795 |
| 2021-02-27 13:48:00 | Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) promotes glioblastoma cell invasion in the brain microenvironment. | 33040087 |
| 2020-07-11 11:37:00 | misallocation of pathogenic mutant MLC1 may disturbs the stable cell-cell communication and the homeostatic regulation of astrocytes in patients with Megalencephalic leukoencephalopathy with subcortical cysts. | 31888684 |
| 2020-05-09 11:32:00 | Novel and deleterious variants in VPS53, GLB1, and MLC1, genes previously associated with variable neurodevelopmental anomalies, were found to segregate with intellectual disabilities in the three families. | 32209057 |
| 2020-04-04 11:09:00 | MLC1 contributes to restore astrocyte homeostasis after inflammation. | 31209783 |
| Type | IDs |
|---|---|
| Synonymous | LVM, MLC, VL |
| Gene |
UniProtKB-ID:
MLC1_HUMAN,
A0A024R4V4_HUMAN
UniprotKB:
Q15049,
A0A024R4V4
UniParc:
UPI000004AD09,
UPI0001915056
EMBL:
AF319633,
AL022327,
D25217,
BC028425,
CH471138,
AK299841,
CR456460,
AK124264
Ensembl:
ENSG00000100427
KO:
hsa:23209
|
| Nucleutide sequences |
EMBL-CDS:
EAW73490.1,
BAA04947.3,
AAH28425.1,
AAK60119.1,
BAH13145.1,
BAG54023.1,
CAG30346.1,
EAW73491.1
Gene_ORFName:
hCG_31853
Ensembl_TRS:
ENST00000395876,
ENST00000311597
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000379216,
ENSP00000310375
RefSeq:
NP_001363406.1,
NP_001363401.1,
NP_001363405.1,
XP_011528980.1,
NP_001363404.1,
NP_001363410.1,
NP_001363402.1,
NP_001363411.1,
NP_001363403.1,
NP_001363407.1,
NP_001363409.1,
NP_001363413.1,
NP_001363408.1,
NP_001363412.1,
NP_055981.1,
NP_631941.1
|
| Others |
UniRef100:
UniRef100_Q15049
UniRef90:
UniRef90_Q15049
UniRef50:
UniRef50_Q15049
UniGene:
Hs.517729
CCDS:
CCDS14083.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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