HSD17B4 across dismech

HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4) encodes the peroxisomal D-bifunctional protein and is named by 2 disorder entries.

Normal function

ai-gene-review gives HSD17B4's core molecular functions as (2E)-enoyl-CoA hydratase activity; and (3R)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity, acting in fatty acid beta-oxidation in the peroxisomal matrix. These are the D(R)-specific hydration and dehydrogenation steps of each peroxisomal beta-oxidation cycle. The upstream review is being updated to also name the peroxisomal and very-long-chain beta-oxidation processes; the pinned ingest layer does not carry that change yet.

Causative records

Both entries type HSD17B4 as causative: D-Bifunctional Protein Deficiency; and Perrault Syndrome. Both record the variants as germline (D-Bifunctional Protein Deficiency; and Perrault Syndrome).

In D-Bifunctional Protein Deficiency the gene sits on the node HSD17B4 D-Bifunctional Protein Deficiency, whose functional impact is recorded as loss of function. In Perrault Syndrome it sits on 2 nodes, including Peroxisomal Fatty Acid Beta-Oxidation Failure.

ClinGen rates HSD17B4 definitive for D-bifunctional protein deficiency and definitive for Perrault syndrome, across 2 classified diseases.

Where the layers disagree

The KB's HSD17B4 nodes are annotated with the processes fatty acid beta-oxidation using acyl-CoA oxidase; and very long-chain fatty acid beta-oxidation, while the pinned ai-gene-review core functions name only the generic parent, so the two layers share 0 GO process terms by exact identifier. The KB terms describe the same peroxisomal beta-oxidation biology more specifically, so this is a difference of granularity rather than of biology.