PPCS (phosphopantothenoylcysteine synthetase)

2003-05-01  

Identity

HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
CMD2C
FUSION GENES

Other Information

Locus ID:

NCBI: 79717
MIM: 609853
HGNC: 25686
Ensembl: ENSG00000127125

Variants:

dbSNP: 79717
ClinVar: 79717
TCGA: ENSG00000127125
COSMIC: PPCS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127125ENST00000372556Q5VVM2
ENSG00000127125ENST00000372560Q5VVM3
ENSG00000127125ENST00000372561Q9HAB8
ENSG00000127125ENST00000372562Q9HAB8

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Pantothenate and CoA biosynthesisKEGGko00770
Pantothenate and CoA biosynthesisKEGGhsa00770
Metabolic pathwaysKEGGhsa01100
Coenzyme A biosynthesis, pantothenate => CoAKEGGhsa_M00120
Coenzyme A biosynthesis, pantothenate => CoAKEGGM00120
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B5 (pantothenate) metabolismREACTOMER-HSA-199220
Coenzyme A biosynthesisREACTOMER-HSA-196783

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
297547682018Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.4
196830782009Kinetic characterization of human phosphopantothenoylcysteine synthetase.2

Citation

Dessen P

PPCS (phosphopantothenoylcysteine synthetase)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40593/ppcs