LIPH

Chr 3q27.2

lipase H

Aliases:: mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR
MANE:: ENST00000296252.9

OMIM: 607365 ↗NCBI: 200879 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LIPH · Q8WWY8

v62025-08-01

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

Mean pLDDT

91.0/ 100

Very high

451 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)13%
Low(50–70)2%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Non-syndromic hypotrichosis
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
Palmoplantar keratoderma and erythrokeratodermas

Disease associations (Open Targets)

hypotrichosis 7
0.74
woolly hair, autosomal recessive 2, with or without hypotrichosis
0.73
hypotrichosis simplex
0.66
Woolly hair
0.39
isolated familial wooly hair disorder
0.39
type 2 diabetes mellitus
0.28
frozen shoulder
0.26
hereditary disease
0.19
uncombable hair syndrome
0.09
oculocutaneous albinism type 6
0.09

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

Protein function (UniProt)

Lipase member H

Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG)