Entity Details

Primary name PPCS
Entity type gene
Source Source Link

Details

PrimaryID79717
RefseqGene
SymbolPPCS
Namephosphopantothenoylcysteine synthetase
Chromosome1
Location1p34.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPPCS_HUMAN

GO terms

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GOName
GO:0003015 heart process
GO:0004632 phosphopantothenate--cysteine ligase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006085 acetyl-CoA biosynthetic process
GO:0015937 coenzyme A biosynthetic process
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity

Diseases

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Disease IDSourceNameDescription
618189 OMIMCardiomyopathy, dilated 2C (CMD2C)A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
PPCSPPCSBioGRID, HPRD, IntAct12906824 32296183 details
PPCSC5orf46BioGRID, IntAct28514442 details
PPCSIDEBioGRID26344197 details
PPCSRPEBioGRID26344197 details