PPFIA3

Chr 19q13.33

PPFI scaffold protein A3

Aliases:: KIAA0654, LPNA3, MGC126567, MGC126569
MANE:: ENST00000334186.9

OMIM: 603144 ↗NCBI: 8541 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PPFIA3 · O75145

v62025-08-01

Predicted Aligned Error matrix for PPFIA3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.9/ 100

Low

1,194 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)28%
Low(50–70)7%
Very low(< 50)35%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

PPFIA3-related neurodevelopmental disorder
0.59
neurodegenerative disease
0.36
Neurodevelopmental delay
0.33
hypertensive disorder
0.22
hereditary disease
0.19
neurodevelopmental disorder
0.19
Increased blood pressure
0.17
cardiovascular disorder
0.14
Irritability
0.11
dislocation
0.07

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

Protein function (UniProt)

Liprin-alpha-3

May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates