Previous symbols: C10orf65, DHDPSL. Aliases: FLJ37472, DHDPS2, NPL2.
HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) is named by 1 disorder entry, Primary Hyperoxaluria Type 3.
ai-gene-review gives HOGA1's core molecular function as (R,S)-4-hydroxy-2-oxoglutarate aldolase activity, acting in trans-4-hydroxy-L-proline catabolic process in the mitochondrial matrix. The KB's HOGA1 node shares trans-4-hydroxy-L-proline catabolic process with those core functions. The node also carries glyoxylate metabolic process; and trans-4-hydroxy-L-proline catabolic process, because the disorder's oxalate excess arises downstream of the blocked aldolase step by a route that is not settled.
Primary Hyperoxaluria Type 3 types HOGA1 causative, with the variants recorded as germline, and places the gene on the node HOGA1 4-Hydroxy-2-Oxoglutarate Aldolase Deficiency. ClinGen rates HOGA1 definitive for primary hyperoxaluria type 3, and the entry records that tier.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Primary Hyperoxaluria Type 3 |
causative
germline
CLINGEN: definitive
|
mechanism: HOGA1 4-Hydroxy-2-Oxoglutarate Aldolase Deficiency
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| primary hyperoxaluria type 3 MONDO:0013327 | AR | Definitive 2024-05-16 |
Primary Hyperoxaluria Type 3
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.