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55907 CMAS

55907

CMAS

cytidine monophosphate N-acetylneuraminic acid synthetase

protein-coding

Homo sapiens

基因描述

Type Description
Definition cytidine monophosphate N-acetylneuraminic acid synthetase

研究结论

Date Results Publications
2021-02-06 13:48:00 A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family. 31495922
2017-04-08 12:00:00 FXR1P interacts with CMAS, and that FXR1P may enhance the activation of sialic acid via interaction with CMAS, and increase GM1 levels to affect the development of the nervous system, thus providing evidence for further research into the pathogenesis of FXS. 27357083

名称对应

Type IDs
Synonymous CSS
Gene
UniProtKB-ID: NEUA_HUMAN
UniprotKB: Q8NFW8
UniParc: UPI000007382E, UPI0000034274
EMBL: BC016609, AL832975, AF397212, AK022927, AF271388
Ensembl: ENSG00000111726
KO: hsa:55907
Nucleutide sequences
EMBL-CDS: AAF76203.1, AAH16609.1, AAM90580.1, CAH56346.1, BAB14311.1
Ensembl_TRS: ENST00000534981, ENST00000229329
Protein sequencees
Ensembl_PRO: ENSP00000229329, ENSP00000446239
RefSeq: NP_061156.1
Others
UniRef100: UniRef100_Q8NFW8
UniRef90: UniRef90_Q8NFW8
UniRef50: UniRef50_Q99KK2
UniGene: Hs.311346
CCDS: CCDS8696.1

全选

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研究热度

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