Curated summary · agent-written · kb/genes/curated/hgnc_67.md

All 12 claims checked against the KB draft

ABCD3 across dismech

ABCD3 (ATP binding cassette subfamily D member 3), also called PMP70, is named by 1 disorder entry.

Normal function

In the ai-gene-review snapshot the KB ingests, ABCD3's core molecular functions are ATPase-coupled transmembrane transporter activity; fatty acyl-CoA hydrolase activity; and long-chain fatty acid transmembrane transporter activity, at the peroxisomal membrane. The upstream review is being updated to use the more specific ABC-type fatty-acyl-CoA transporter term, which is the term the KB binds.

Disease records

The one entry types ABCD3 as causative: Congenital Bile Acid Synthesis Defect 5, with a germline variant origin and a functional impact of loss of function. ABCD3 sits on the node ABCD3 Loss of Function. ClinGen rates the relationship only limited, below the Definitive or Strong tier that a causative typing implies.

Where the layers agree and disagree

The KB process on ABCD3's own node is peroxisome organization, recorded as abnormal, while the import and bile-acid processes sit on downstream nodes; the exact-identifier overlap with ai-gene-review core processes is therefore 0.

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 (P28288, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; 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
Congenital Bile Acid Synthesis Defect 5	causative germline loss of function CLINGEN: limited	mechanism: ABCD3 Loss of Function

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
congenital bile acid synthesis defect 5 MONDO:0014564	AR	Limited 2025-07-08	Congenital Bile Acid Synthesis Defect 5 causative

Mechanism modules · computed from kb/

peroxisomal_metabolic_failure via Congenital Bile Acid Synthesis Defect 5