| Type | Description |
|---|---|
| Definition | chromosome 12 open reading frame 65 |
| Date | Results | Publications |
|---|---|---|
| 2019-11-30 12:55:00 | results showed two compound heterozygous mutations, c.394C>T and c.447_449delGGAinsGT, in the C12orf65 gene. The former mutation came from her father | 31753091 |
| 2016-05-21 11:02:00 | We demonstrate that the identical nonsense mutation in C12orf65 can result in different clinical features | 25995486 |
| 2015-04-04 12:38:00 | our study delineates the broad spectrum of C12orf65 defects and establishes a distinct genotype-phenotype correlation. The obligatory clinical triad is optic atrophy, peripheral neuropathy, and spastic paraparesis. | 24424123 |
| 2014-10-04 12:11:00 | The C12orf65 gene encodes a mitochondrial matrix protein that is critical for the release of newly synthesized proteins from mitochondrial ribosomes. | 24284555 |
| 2014-06-28 10:11:00 | Truncating mutations in C12ORF65 lead to a variable phenotype with intellectual disability, spastic paraplegia, and ophthalmoplegia in 2 patients. | 24080142 |
| Type | IDs |
|---|---|
| Synonymous | COXPD7, SPG55 |
| Gene |
UniProtKB-ID:
CL065_HUMAN
UniprotKB:
Q9H3J6
UniParc:
UPI000007035F,
UPI000006ECC8
EMBL:
BC018145,
AF061733,
BC020885,
CH471054,
AK095982,
BC062329
Ensembl:
ENSG00000130921
KO:
hsa:91574
|
| Nucleutide sequences |
EMBL-CDS:
EAW98396.1,
AAH62329.1,
EAW98395.1,
AAG43144.1,
AAH20885.1,
AAH18145.1,
BAC04665.1
Gene_ORFName:
My030
Ensembl_TRS:
ENST00000366329,
ENST00000429587,
ENST00000253233
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000391513,
ENSP00000253233,
ENSP00000390647
RefSeq:
NP_001181924.1,
NP_001137377.1,
XP_011537282.1,
NP_689482.1,
XP_005253687.1,
XP_024305041.1
|
| Others |
UniRef100:
UniRef100_Q9H3J6
UniRef90:
UniRef90_Q9H3J6
UniRef50:
UniRef50_Q9H3J6
UniGene:
Hs.319128
CCDS:
CCDS9244.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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