AlphaFold predicted structure
LIPN · Q5VXI9
Mean pLDDT
91.9/ 100
Very high
398 residues
Confidence breakdown
- Very high(≥ 90)80%
- Confident(70–90)13%
- Low(50–70)3%
- Very low(< 50)4%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
LIPN
Chr 10q23.31lipase family member N
- Aliases:
- bA186O14.3
- MANE:
- ENST00000404459.2
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalPalmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomalAutosomal recessive congenital ichthyosis
BIALLELIC, autosomal or pseudoautosomalEctodermal dysplasia
BIALLELIC, autosomal or pseudoautosomalFamilial cicatricial alopecia
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIchthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
lamellar ichthyosis
0.50autosomal recessive congenital ichthyosis
0.37arthropathy
0.28metabolic syndrome
0.073-hydroxy-3-methylglutaryl-CoA synthase deficiency
0.06hyperproinsulinemia
0.04Glycogen storage disease due to hepatic glycogen synthase deficiency
0.04glycogen storage disorder due to hepatic glycogen synthase deficiency
0.04exercise-induced hyperinsulinism
0.04androgenetic alopecia
0.03
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Lipase member N
Plays a highly specific role in the last step of keratinocyte differentiation. Contains two distinct domains: the alpha/beta hydrolase fold and the abhydrolase-associated lipase region, also features the consensus sequence of the active site of a genuine lipase. May have an essential function in lipid metabolism of the most differentiated epidermal layers