| Type | Description |
|---|---|
| Definition | transmembrane protein 70 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-02 12:49:00 | Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. | 31729175 |
| 2020-10-31 13:19:00 | TMEM70 functions in the assembly of complexes I and V. | 32275929 |
| 2020-07-11 12:30:00 | cause of hyperammonemia in TMEM70 deficiency was previously assumed to be related to carbamoyl phosphate synthase 1 deficiency, but our finding of hypercitrullinemia rules out this possibility. We thus propose a different etiology for the hyperammonemia seen in these patients | 30950220 |
| 2017-03-18 10:35:00 | Chinese family with dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 mutations. | 25825456 |
| 2016-08-06 11:14:00 | In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment. | 26550569 |
| Type | IDs |
|---|---|
| Synonymous | MC5DN2 |
| Gene |
UniProtKB-ID:
TMM70_HUMAN
UniprotKB:
Q9BUB7
UniParc:
UPI000006F42E,
UPI0000D77E72,
UPI00001BBFAB
EMBL:
BC002748,
AC022868,
AK000540
Ensembl:
ENSG00000175606
KO:
hsa:54968
|
| Nucleutide sequences |
EMBL-CDS:
AAH02748.2,
BAA91240.1
Ensembl_TRS:
ENST00000517439,
ENST00000312184
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000429467,
ENSP00000312599
RefSeq:
NP_060336.3,
NP_001035703.1
|
| Others |
UniRef100:
UniRef100_Q9BUB7
UniRef90:
UniRef90_Q9BUB7
UniRef50:
UniRef50_Q9BUB7
UniGene:
Hs.106650
CCDS:
CCDS47876.1,
CCDS6215.1
|
| {{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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