MTR

5-methyltetrahydrofolate-homocysteine methyltransferase

2 disorders 1 no genetic record 1 causative 1q43 gene with protein product

HGNC:7468 Monarch NCBI Gene 4548 ENSG00000116984 UniProt Q99707 OMIM 156570

Aliases: cblG.

Normal function · from ai-gene-review (Q99707, 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
Methylcobalamin Deficiency Type cblG	causative	mechanism: Methionine Synthase Loss of Function
Inborn Disorder of Cobalamin Metabolism and Transport	no genetic record	mechanism: Impaired methionine synthase activity and remethylation subtype: cblG

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
methylcobalamin deficiency type cblG MONDO:0009609	AR	Definitive 2021-07-02	Inborn Disorder of Cobalamin Metabolism and Transport no genetic record Methylcobalamin Deficiency Type cblG causative

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