| Type | Description |
|---|---|
| Definition | iron-sulfur cluster assembly factor IBA57 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:14:00 | Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery. | 31831856 |
| 2019-08-03 12:03:00 | Combined with previously reported patient studies, our findings suggest that defects in IBA57 can produce diverse phenotypes. IBA57 should be considered a candidate gene for cavitating leukoencephalopathy | 28671726 |
| 2018-12-22 11:21:00 | a patient with infantile-onset optic atrophy and asymptomatic white matter involvement, thus broadening the phenotypic spectrum of biallelic IBA57 mutations. | 30258207 |
| 2017-04-15 10:08:00 | Description of four unrelated patients carrying novel mutations in IBA57; study expands the array of the genotypic variation of IBA57 and delineates the leukodystrophic pattern of IBA57 deficient patients | 27785568 |
| 2015-04-11 11:56:00 | Findings reinforce the suggested specific function of IBA57 in mitochondrial [4Fe-4S] protein maturation and provide additional evidence for its role in hereditary spastic paraplegia | 25609768 |
| Type | IDs |
|---|---|
| Synonymous | C1orf69, MMDS3, SPG74 |
| Gene |
UniProtKB-ID:
CAF17_HUMAN,
B4E1G9_HUMAN
UniprotKB:
Q5T440,
B4E1G9
UniParc:
UPI00017A863D,
UPI0000160A21
EMBL:
AL359510,
AK303837
Ensembl:
ENSG00000181873
KO:
hsa:200205
|
| Nucleutide sequences |
EMBL-CDS:
BAG64781.1
Ensembl_TRS:
ENST00000366711
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000355672
RefSeq:
NP_001010867.1,
NP_001297256.1
|
| Others |
UniRef100:
UniRef100_B4E1G9,
UniRef100_Q5T440
UniRef90:
UniRef90_Q5T440,
UniRef90_B4E1G9
UniRef50:
UniRef50_A0A2I0TA70,
UniRef50_Q5T440
UniGene:
Hs.237017,
Hs.636881
CCDS:
CCDS31046.1
|
| {{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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