PLCH1

Chr 3q25.31

phospholipase C eta 1

Aliases:: KIAA1069, MGC117152, DKFZp434C1372, PLCeta1
MANE:: ENST00000460012.7

OMIM: 612835 ↗NCBI: 23007 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLCH1 · Q4KWH8

v62025-08-01

Predicted Aligned Error matrix for PLCH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.5/ 100

Low

1,693 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)17%
Low(50–70)9%
Very low(< 50)51%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Holoprosencephaly
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

holoprosencephaly 14
0.56
alobar holoprosencephaly
0.37
neurodegenerative disease
0.37
insomnia
0.36
alcohol drinking
0.34
nervous system disorder
0.29
stroke disorder
0.26
Alzheimer disease
0.25
adolescent idiopathic scoliosis
0.24
Hypercholesterolemia
0.22

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

Protein function (UniProt)

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1

The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes