Curated summary · agent-written · kb/genes/curated/hgnc_17759.md

All 12 claims checked against the KB draft

PDSS1 across dismech

PDSS1 (decaprenyl diphosphate synthase subunit 1) is named by 1 disorder entry.

Normal function

ai-gene-review gives PDSS1's core molecular function as all-trans-decaprenyl-diphosphate synthase activity, acting in ubiquinone biosynthetic process. PDSS1 and PDSS2 form a heterotetramer that builds the decaprenyl side chain of coenzyme Q10. The upstream review is being updated to record this activity as one PDSS1 contributes to as part of that complex, as PDSS2's review already does.

Causative records

One entry types PDSS1 as causative: Primary Coenzyme Q10 Deficiency, with a germline origin. There the gene sits on Defective Polyisoprenoid Side-Chain Assembly and Attachment, together with PDSS2 and COQ2, 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 PDSS1 for 1 disease with no matching dismech entry: mitochondrial disease.

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 (Q5T2R2, 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: PDSS1 scoped to subtype: PDSS1

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
mitochondrial disease MONDO:0044970	AR	Moderate 2023-07-31	no dismech entry