HACL1

Chr 3

2-hydroxyacyl-CoA lyase 1

Also known as: 2-HPCL, HPCL, HPCL2, PHYH2

Enables several functions, including 2-hydroxyacyl-CoA lyase activity; ATP binding activity; and cation binding activity. Involved in fatty acid alpha-oxidation; phytanic acid metabolic process; and protein targeting to peroxisome. Located in peroxisome. [provided by Alliance of Genome Resources, Jun 2026]

GeneReviewsResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.01
LOEUF
DN
Mechanism· predicted
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GeneReview available — HACL1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.01LOEUF
pLI 0.000
Z-score 1.53
OE 0.71 (0.501.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.04Z-score
OE missense 1.01 (0.921.10)
321 obs / 318.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.71 (0.501.01)
00.351.4
Missense OE?1.01 (0.921.10)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 22 / 31.2Missense obs/exp: 321 / 318.8Syn Z: 0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HACL1 · 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

No active trials found for this gene.

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