LIPE

Chr 19

lipase E, hormone sensitive type

Also known as: AOMS4, FPLD6, HSL, LHS, REH

NCBI Gene: 3991ENSG00000079435UniProt: Q05469

The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLipodystrophy, familial partial, 6

Clinical highlights

Gene-disease validity (ClinGen)
LIPE-related familial partial lipodystrophy · ARDefinitivesufficient evidence for diagnostic panels
1
Active trials
65
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.85
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.85LOEUF
pLI 0.000
Z-score 2.30
OE 0.61 (0.44–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.95Z-score
OE missense 0.89 (0.83–0.96)
582 obs / 650.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.44–0.85)
0≤0.351.4
Missense OE?0.89 (0.83–0.96)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 24 / 39.7Missense obs/exp: 582 / 650.3Syn Z: 0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LIPE · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients