| Type | Description |
|---|---|
| Definition | NHL repeat containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:26:00 | Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease. | 33092303 |
| 2019-06-01 10:06:00 | Malin knockout mice develop Cardiac Hypertrophy and marked Systolic Dysfunction. Histological assessment showed abundant glycogen aggregates inside the cardiomyocytes, including typical Lafora bodies. | 28619201 |
| 2018-03-17 10:13:00 | The authors conclude that laforin's principle function is to control glycogen chain lengths, in a malin-dependent fashion, and that loss of this control underlies Lafora disease. | 28536304 |
| 2018-03-10 11:51:00 | The present study analyzes possible inflammatory responses in the mouse lines Epm2a (-/-) (laforin knock-out) and Epm2b (-/-) (malin knock-out) with disease progression. | 27041370 |
| 2018-02-24 11:44:00 | that laforin and malin are novel regulators of mitochondrial quality control pathway and that the mitochondrial dysfunction resulting from the increased Drp1 levels could underlie neuropathology in Lafora disease | 28063983 |
| Type | IDs |
|---|---|
| Synonymous | AI505271, B230309E09Rik, EPM2B |
| Gene |
UniProtKB-ID:
NHLC1_MOUSE,
Q0VF71_MOUSE
UniprotKB:
Q8BR37,
Q0VF71
UniParc:
UPI00000EAE85
EMBL:
AK045746,
BC118952,
BK001499,
BC118951
Ensembl:
ENSMUSG00000044231
KO:
mmu:105193
|
| Nucleutide sequences |
EMBL-CDS:
BAC32478.1,
DAA01953.1,
AAI18953.1,
AAI18952.1
Ensembl_TRS:
ENSMUST00000052747
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000054990
RefSeq:
NP_780549.1
|
| Others |
UniRef100:
UniRef100_Q8BR37
UniRef90:
UniRef90_Q8BR37
UniRef50:
UniRef50_Q6VVB1
UniGene:
Mm.25593
CCDS:
CCDS26487.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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