HMGCLL1

Chr 6

3-hydroxy-3-methylglutaryl-CoA lyase like 1

Also known as: ERCHL, bA418P12.1, er-cHL

NCBI Gene: 54511ENSG00000146151UniProt: Q8TB92

Enables hydroxymethylglutaryl-CoA lyase activity. Involved in ketone body biosynthetic process. Located in several cellular components, including cytosol; endoplasmic reticulum; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.07
LOEUF
Multiple*
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?
1.07LOEUF
pLI 0.000
Z-score 1.34
OE 0.67 (0.44–1.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.49Z-score
OE missense 1.10 (0.98–1.23)
218 obs / 198.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.67 (0.44–1.07)
0≤0.351.4
Missense OE?1.10 (0.98–1.23)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 13 / 19.4Missense obs/exp: 218 / 198.7Syn Z: 0.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HMGCLL1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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