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763 CA5A

763

CA5A

carbonic anhydrase 5A

protein-coding

Homo sapiens

基因描述

Type Description
Definition carbonic anhydrase 5A

研究结论

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

名称对应

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

全选

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研究热度

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