Entity Details

Primary name PISD
Entity type gene
Source Source Link

Details

PrimaryID23761
RefseqGeneNG_050741
SymbolPISD
Namephosphatidylserine decarboxylase
Chromosome22
Location22q12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-04
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPISD_HUMAN

GO terms

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GOName
GO:0004609 phosphatidylserine decarboxylase activity
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0006646 phosphatidylethanolamine biosynthetic process
GO:0010821 regulation of mitochondrion organization
GO:0016540 protein autoprocessing
GO:0031305 integral component of mitochondrial inner membrane
GO:0035694 mitochondrial protein catabolic process

Diseases

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Disease IDSourceNameDescription
618889 OMIMLiberfarb syndrome (LIBF)An autosomal recessive multisystem disorder affecting the eye, ear, bone, and brain development. Clinical features include early-onset retinal degeneration, congenital cataracts, sensorineural hearing loss, microcephaly, intellectual disability, white matter changes, mild facial dysmorphism, and skeletal dysplasia with platyspondyly, scoliosis and short stature. The disease is caused by variants affecting the gene represented in this entry.