MCEE

methylmalonyl-CoA epimerase

2 disorders 2 causative 2p13.3 gene with protein product

HGNC:16732 Monarch NCBI Gene 84693 ENSG00000124370 UniProt Q96PE7 OMIM 608419

Aliases: GLOD2, MCE, MMCE.

Normal function · from ai-gene-review (Q96PE7, 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
Methylmalonic Acidemia	causative	mechanism: Methylmalonyl-CoA epimerase deficiency
Methylmalonyl-CoA Epimerase Deficiency	causative germline loss of function	mechanism: MCEE 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
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615	AR	Definitive 2020-07-09	Methylmalonyl-CoA Epimerase Deficiency causative

Mechanism modules · computed from kb/

metabolic_intoxication_decompensation via Methylmalonyl-CoA Epimerase Deficiency

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