PISD

Chr 22q12.2

phosphatidylserine decarboxylase

Aliases:: dJ858B16.2, PSDC
MANE:: ENST00000439502.7

OMIM: 612770 ↗NCBI: 23761 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PISD · Q9UG56

v62025-08-01

Predicted Aligned Error matrix for PISD — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.6/ 100

Confident

409 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)43%
Low(50–70)3%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Liberfarb syndrome
0.70
type 2 diabetes mellitus
0.35
diabetes mellitus
0.30
pneumococcal pneumonia
0.25
connective tissue disorder
0.25
Genu valgum
0.25
Genu varum
0.25
alcohol drinking
0.25
hereditary disease
0.19
skeletal dysplasia
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phosphatidylserine decarboxylase proenzyme, mitochondrial

Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer) (PubMed:30488656, PubMed:30858161). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine. May be involved in lipid droplet biogenesis at the endoplasmic reticulum membrane (By similarity)