| Type | Description |
|---|---|
| Definition | molybdenum cofactor synthesis 2 |
| Date | Results | Publications |
|---|---|---|
| 2010-01-21 00:00:00 | We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c.130C>T in cDNA of the MOCS2 gene from the infant. | 17158010 |
| 2010-01-21 00:00:00 | Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives | 12754701 |
| 2010-01-21 00:00:00 | analysis of sites within MOCS2 where mutations cause molybdenum cofactor deficiency | 12732628 |
| 2010-01-21 00:00:00 | There was undisturbed production of both transcripts, while Western blot analysis demonstrated that MOCS2B, the large subunit, is unstable in the absence of MOCS2A. | 16737835 |
| Type | IDs |
|---|---|
| Synonymous | MCBPE, MOCO1, MOCODB, MPTS |
| Gene |
UniProtKB-ID:
MOC2B_HUMAN,
MOC2A_HUMAN,
A0A024QZS1_HUMAN
UniprotKB:
O96007,
O96033,
A0A024QZS1
UniParc:
UPI000012F5A1,
UPI000000DB29
EMBL:
CH471123,
AK312887,
AF117815,
CR457172,
AF091871,
BC046097,
AF155659
Ensembl:
ENSG00000164172
KO:
hsa:4338
|
| Nucleutide sequences |
EMBL-CDS:
AAF67478.1,
AAH46097.1,
CAG33453.1,
AAD14599.1,
BAG35735.1,
AAD13297.1,
EAW54874.1,
AAD13296.1,
AAD14598.1,
EAW54876.1,
EAW54877.1
Gene_ORFName:
hCG_40684
Ensembl_TRS:
ENST00000396954,
ENST00000582677,
ENST00000508922,
ENST00000361377,
ENST00000450852,
ENST00000510818,
ENST00000584946
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000380157,
ENSP00000411022,
ENSP00000424267,
ENSP00000426274,
ENSP00000462870,
ENSP00000464663,
ENSP00000355160
RefSeq:
NP_789776.1,
NP_004522.1
|
| Others |
UniRef100:
UniRef100_O96007,
UniRef100_O96033
UniRef90:
UniRef90_O96007,
UniRef90_O96033
UniRef50:
UniRef50_O96007,
UniRef50_O96033
UniGene:
Hs.163645,
Hs.594335
CCDS:
CCDS3958.1,
CCDS47205.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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