MMACHC (Gene)

Organism:

Homo sapiens

Synonyms:ENTREZ:25974, HGNC:24525, MIM:609831, MMACHC, NM_001330540, NM_015506, NP_001317469, NP_056321, XM_005270724, XP_005270781, cblC, metabolism of cobalamin associated C

Omim:OMIM:609831

Id:ENSG00000132763

Hgnc:HGNC:24525

Entrez:25974

Ensembl:ENSG00000132763

Description:metabolism of cobalamin associated C

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View MMACHC's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with MMACHC.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using MMACHC.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for MMACHC.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with MMACHC.

Results found

Linked to

	Label	Description
	GSE135514 8 V 7 DASATINIB HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE242555 1 V 0 NICOTINAMIDE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE261563 CX-5461 6 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE226285 3 V 0 GLUTATHIONE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE120612 4 V 1 ETOPOSIDE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE135030 3 V 10 FLUDARABINE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE146687 2 V 5 ERIBULIN HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE108464 AZ-628 1 v 15 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE165334 2 V 0 DABRAFENIB HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS

GSE135514 8 V 7 DASATINIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE242555 1 V 0 NICOTINAMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE261563 CX-5461 6 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE226285 3 V 0 GLUTATHIONE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE120612 4 V 1 ETOPOSIDE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE135030 3 V 10 FLUDARABINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE146687 2 V 5 ERIBULIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE108464 AZ-628 1 v 15 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE165334 2 V 0 DABRAFENIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.