Type | Description |
---|---|
Definition | carbonic anhydrase 5A |
Date | Results | Publications |
---|---|---|
2017-09-16 11:49:00 | In 10 of 96 patients, mutations in CA5A were identified on both alleles but none in CA5B. Exhibiting decreased enzyme activity or thermal stability, all CAVA mutations were proven to cause disease, whereas the three variants showed no relevant effect | 26913920 |
2014-05-03 11:20:00 | CA5A alterations cause hyperammonemia in early childhood that result in mitochondrial carbonic anhydrase VA deficiency | 24530203 |
2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
2010-01-21 00:00:00 | activators enhanced kcat, with no effect on KM, favoring the RDS in the catalytic cycle; the activation pattern of the two mitochondrial isoforms is very different from each other and as compared to those of the cytosolic isoforms hCA I and II. | 17174092 |
Type | IDs |
---|---|
Synonymous | CA5, CA5AD, CAV, CAVA, GS1-21A4.1 |
Gene |
UniProtKB-ID:
CAH5A_HUMAN
UniprotKB:
P35218
UniParc:
UPI0000126DF3
EMBL:
CH471114,
U25134,
S80180,
S80177,
S80176,
S80175,
L19297,
BC137405,
BC137411,
S80178,
S80240,
S80181
Ensembl:
ENSG00000174990
KO:
hsa:763
|
Nucleutide sequences |
EMBL-CDS:
AAA02890.1,
AAC99806.1,
AAI37412.1,
AAB47048.1,
EAW95372.1,
AAI37406.1
Ensembl_TRS:
ENST00000649794
|
Protein sequencees |
Ensembl_PRO:
ENSP00000498065
RefSeq:
XP_005256191.1,
XP_016879135.1,
NP_001730.1,
NP_001354154.1,
XP_011521611.1
|
Others |
UniRef100:
UniRef100_P35218
UniRef90:
UniRef90_P35218
UniRef50:
UniRef50_P35218
UniGene:
Hs.177446
CCDS:
CCDS10965.1
|
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Refseq |
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