| Type | Description |
|---|---|
| Definition | AFG3 like matrix AAA peptidase subunit 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-02 12:53:00 | Inactivation of the mitochondrial protease Afg3l2 results in severely diminished respiratory chain activity and widespread defects in mitochondrial gene expression. | 33075064 |
| 2020-11-21 13:32:00 | ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. | 32219868 |
| 2020-06-06 13:57:00 | Our data identify the earliest events in SCA28 pathogenesis and open new perspectives for therapy. By identifying similar mitochondrial phenotypes between SCA28 cells and AFG3L2(+/-) cells, our results support haploinsufficiency as the mechanism for the studied pathogenic variants. | 30910913 |
| 2020-02-01 11:34:00 | results provide a molecular basis for neurological phenotypes associated with different AFG3L2 mutations and establish a structural framework to understand how different members of the AAA+ superfamily achieve specialized biological functions. | 31327635 |
| 2020-01-18 11:23:00 | AFG3L2 variants should be considered in both slowly progressive ataxias and phenotypes with clinical features reminiscent of mitochondrial disease | 31111429 |
| Type | IDs |
|---|---|
| Synonymous | SCA28, SPAX5 |
| Gene |
UniProtKB-ID:
AFG32_HUMAN,
Q8TA92_HUMAN
UniprotKB:
Q9Y4W6,
Q8TA92
UniParc:
UPI0000070D4C,
UPI000013D7FF
EMBL:
BC024282,
Y18314,
BC065016
Ensembl:
ENSG00000141385
KO:
hsa:10939
|
| Nucleutide sequences |
EMBL-CDS:
CAB48398.1,
AAH65016.1,
AAH24282.1
Ensembl_TRS:
ENST00000269143
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000269143
RefSeq:
XP_011523903.1,
NP_006787.2
|
| Others |
UniRef100:
UniRef100_Q9Y4W6,
UniRef100_Q8TA92
UniRef90:
UniRef90_A0A3Q2GTN7,
UniRef90_Q9Y4W6
UniRef50:
UniRef50_Q9Y4W6
UniGene:
Hs.726355
CCDS:
CCDS11859.1
|
| {{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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