Curated summary · agent-written · kb/genes/curated/hgnc_603.md

All 16 claims checked against the KB draft

APOB across dismech

APOB (apolipoprotein B) is named by 5 disorder entries. It encodes apolipoprotein B, the structural protein of chylomicrons, VLDL and LDL particles.

Normal function

The pinned ai-gene-review snapshot that the ingest layer reads has no core functions for APOB (0 terms). An upstream review of the gene is being added or updated.

Causative records

The entries that type APOB as causative are Familial Defective Apolipoprotein B-100; Hypobetalipoproteinemia, and the germline-origin causative entries are Familial Defective Apolipoprotein B-100; Hypobetalipoproteinemia. ClinGen rates the gene definitive for familial defective apolipoprotein B-100 and definitive for hypobetalipoproteinemia.

In Familial Defective Apolipoprotein B-100 the gene sits on the nodes APOB Receptor-Binding-Region Missense Variant and Defective ApoB-100 Binding to a Structurally Normal LDL Receptor. In Hypobetalipoproteinemia it sits on APOB Truncating Variant and Impaired Hepatic and Intestinal ApoB-Lipoprotein Assembly and Secretion. The KB's mechanism annotations for APOB name the processes cholesterol metabolic process; low-density lipoprotein particle clearance; receptor-mediated endocytosis; very-low-density lipoprotein particle assembly.

Other entries

MEND Syndrome records APOB as modifier. The entries with a genetic record for APOB that carries no relationship type are Familial Hypercholesterolemia; Hyperlipidemia.

Where the layers disagree

Because the pinned ai-gene-review snapshot has no core functions for the gene, the KB and ai-gene-review currently share 0 GO process terms.

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

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
Familial Defective Apolipoprotein B-100	causative germline partial loss of function CLINGEN: definitive	mechanism: APOB Receptor-Binding-Region Missense Variant; Defective ApoB-100 Binding to a Structurally Normal LDL Receptor
Hypobetalipoproteinemia	causative germline loss of function CLINGEN: definitive	mechanism: APOB Truncating Variant; Impaired Hepatic and Intestinal ApoB-Lipoprotein Assembly and Secretion subtype: FHBL1 Heterozygous; FHBL1 Homozygous diagnosis: APOB molecular genetic testing
MEND Syndrome	modifier
Familial Hypercholesterolemia	untyped Pathogenic Mutations	mechanism: APOB-LDLR Binding Defect treatment: Mipomersen
Hyperlipidemia	untyped Monogenic Cause and ApoB-Trafficking Determinant	mechanism: Impaired Hepatic ApoB-Containing Lipoprotein Clearance

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
hypercholesterolemia, autosomal dominant, type B MONDO:0007751	AD	Definitive 2018-11-14	Familial Defective Apolipoprotein B-100 causative
familial hypobetalipoproteinemia 1 MONDO:0014252	SD	Definitive 2020-02-26	Hypobetalipoproteinemia causative