2-hydroxyacyl-CoA lyase 2 is a protein that in humans is encoded by the HACL2 gene. It was originally called ILVBL (ilvB-like) for its similarity to acetolactate synthase.
Function The protein product catalyzes the cleavage step of alpha oxidation in the endoplasmic reticulum. Specifically it is an enzyme that cleaves a 2-hydroxyhexadecanoyl (or hydroxyoctadecanoyl) CoA into coenzyme A and the corresponding aldehyde, heptadecanal or pentadecanal. It is involved in phytosphingosine degradation. There is no specific Enzyme Commission number for this activity as of 2026, being only vaguely categorizable as 4.1.2.-. It has a paralog in humans, HACL1 (gene), which performs a similar reaction in the peroxisome and is considered EC 4.1.2.62 (2-hydroxyacyl-CoA lyase).
Structure
Gene Human ILVBL gene has 17 exons resides on chromosome 19 at q13.1.
Clinical significance CADASIL, an identified autosomal dominant condition characterized by the recurrence of subcortical infarcts leading to dementia, was previously mapped to “ILVBL” gene within a 2-cM interval, D19S226–D19S199. This gene encodes a protein highly similar to the acetolactate synthase of other organisms. No recombination event was observed with D19S841, a highly polymorphic microsatellite marker isolated from a cosmid mapped to this region. No mutation was detected on this gene in CADASIL patients, suggesting that it is not implicated in this disorder.
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