| Type | Description |
|---|---|
| Definition | chromosome 19 open reading frame 12 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-19 13:37:00 | Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. | 31518459 |
| 2019-11-16 12:07:00 | pathogenic mutation in C19ORF12 gene (exon2, c.2327C>T, p.P776L) was identified from the patients according to the American College of Medical Genetics and Genomics (ACMG) guideline | 31607023 |
| 2019-07-13 11:11:00 | and justification for screening C19orf12 was known contribution of mitochondrial dysfunction to ALS etiology | 30553531 |
| 2018-07-28 11:49:00 | This study showed that C19orf19 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder. | 29325618 |
| 2018-03-10 11:19:00 | This study shown neurodegeneration associated with mutations in C19orf12 in the periventricular region. | 28347614 |
| Type | IDs |
|---|---|
| Synonymous | MPAN, NBIA3, NBIA4, SPG43 |
| Gene |
UniProtKB-ID:
CS012_HUMAN
UniprotKB:
Q9NSK7
UniParc:
UPI000006D520,
UPI0000227E38,
UPI000004A04B,
UPI0000DB2738
EMBL:
BC017211,
AC010513,
BC004957,
BC063518,
AL162066,
BC009946,
AK057185,
DA708831
Ensembl:
ENSG00000131943
KO:
hsa:83636
|
| Nucleutide sequences |
EMBL-CDS:
CAB82403.1,
AAH04957.1,
AAH17211.2,
AAH63518.1,
BAG51878.1,
AAH09946.1
Ensembl_TRS:
ENST00000392278,
ENST00000392276,
ENST00000623113,
ENST00000614091,
ENST00000592153,
ENST00000323670
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000485413,
ENSP00000482097,
ENSP00000376103,
ENSP00000467117,
ENSP00000313332,
ENSP00000376102
RefSeq:
NP_001242975.1,
NP_001269859.1,
NP_001269860.1,
XP_024307503.1,
NP_001269858.1,
XP_024307502.1,
XP_024307505.1,
NP_001242976.1,
NP_001026896.3,
NP_113636.2,
XP_024307506.1,
XP_024307504.1
|
| Others |
UniRef100:
UniRef100_Q9NSK7
UniRef90:
UniRef90_Q9NSK7
UniRef50:
UniRef50_Q9NSK7
UniGene:
Hs.529094
CCDS:
CCDS59373.1,
CCDS12418.2,
CCDS74325.1,
CCDS42542.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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