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79717 PPCS

79717

PPCS

phosphopantothenoylcysteine synthetase

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphopantothenoylcysteine synthetase

研究结论

Date Results Publications
2018-12-22 10:28:00 Exome sequencing in five individuals from two unrelated families presenting with dilated cardiomyopathy revealed biallelic mutations in PPCS. 29754768
2010-01-21 00:00:00 Oxygen transfer studies found that 18O from [carboxyl-18O] phosphopantothenate is incorporated into AMP or CMP produced during PPCS catalysis, consistent with the formation of a phosphopantothenoyl cytidylate or phosphopantothenoyl adenylate intermediate 19683078

名称对应

Type IDs
Synonymous CMD2C
Gene
UniProtKB-ID: PPCS_HUMAN
UniprotKB: Q9HAB8
UniParc: UPI000035B21F, UPI0000032D18
EMBL: AL445669, BC012383, BC106064, AK021900, BC104938, BC112015
Ensembl: ENSG00000127125
KO: hsa:79717
Nucleutide sequences
EMBL-CDS: AAI04939.1, AAI06065.1, BAB13931.1, AAI12016.1
Ensembl_TRS: ENST00000372561, ENST00000372562
Protein sequencees
Ensembl_PRO: ENSP00000361642, ENSP00000361643
RefSeq: NP_001274438.1, NP_078940.2, NP_001274440.1, NP_001274439.1, NP_001274437.1, NP_001274435.1, NP_001274436.1, NP_001070915.1
Others
UniRef100: UniRef100_Q9HAB8
UniRef90: UniRef90_Q9HAB8
UniRef50: UniRef50_Q9HAB8
UniGene: Hs.706662
CCDS: CCDS41312.1, CCDS41311.1

全选

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