Aliases: cblB, CFAP23.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
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: MMUT/AdoCbl pathway molecular function deficiency
subtype: Vitamin B12-responsive methylmalonic acidemia; Vitamin B12-unresponsive methylmalonic acidemia
scoped to subtype: Vitamin B12-unresponsive methylmalonic acidemia
|
| Inborn Disorder of Cobalamin Metabolism and Transport | no genetic record |
mechanism: Impaired methylmalonyl-CoA mutase activity and propionate catabolism
subtype: cblB
|
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 aciduria, cblB type MONDO:0009614 | AR | Definitive 2022-07-13 |
Inborn Disorder of Cobalamin Metabolism and Transport
no genetic record
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.