PDSS2

decaprenyl diphosphate synthase subunit 2

1 disorder 1 causative 6q21 gene with protein product

HGNC:23041 Monarch NCBI Gene 57107 ENSG00000164494 UniProt Q86YH6 OMIM 610564

Previous symbols: C6orf210. Aliases: bA59I9.3, COQ1B.

Curated summary · agent-written · kb/genes/curated/hgnc_23041.md

All 13 claims checked against the KB draft

PDSS2 across dismech

PDSS2 (decaprenyl diphosphate synthase subunit 2) is named by 1 disorder entry.

Normal function

ai-gene-review records PDSS2 as contributing to all-trans-decaprenyl-diphosphate synthase activity as a subunit of the PDSS1/PDSS2 heterotetramer, acting in ubiquinone biosynthetic process in the mitochondrial matrix.

Causative records

One entry types PDSS2 as causative: Primary Coenzyme Q10 Deficiency, with a germline origin. There the gene sits on Defective Polyisoprenoid Side-Chain Assembly and Attachment and on the shared node Defective CoQ10 Biosynthesis.

Where the layers agree and disagree

The KB mechanism nodes and ai-gene-review share ubiquinone biosynthetic process as a GO process by exact identifier.

ClinGen classifies PDSS2 for 1 disease. ClinGen-classified entries whose own record does not type PDSS2 are Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1; and Leigh Syndrome. These are leads for the next curation pass, not defects.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (Q86YH6, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

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 Coenzyme Q10 Deficiency	causative germline	mechanism: Defective CoQ10 Biosynthesis; Defective Polyisoprenoid Side-Chain Assembly and Attachment subtype: PDSS2 scoped to subtype: PDSS2

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
Leigh syndrome MONDO:0009723	AR	Moderate 2021-03-11	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.