MMADHC (Gene)

Organism:

Homo sapiens

Synonyms:C2orf25, CL25022, ENTREZ:27249, HGNC:25221, MIM:611935, MMADHC, NM_015702, NP_056517, cblD, metabolism of cobalamin associated D

Id:ENSG00000168288

Entrez:27249

Ensembl:ENSG00000168288

Description:metabolism of cobalamin associated D

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View MMADHC'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 MMADHC.

CFDE Gene-Centric Appyter

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

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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 MMADHC.

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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 MMADHC.

Results found

Linked to

	Label	Description
	GSE218773 ABL2 knockdown Hep-G2 2 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE158834 0 V 3 PALMITIC ACID HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE168401 2 V 0 HARMINE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE213588 9 V 13 TRAMETINIB HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE228430 FABP5 inhibition Huh-7 2 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE116810 5 V 1 SELINEXOR HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE162892 ISOX 3 v 0 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE181517 0 V 1 DOXORUBICIN HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE162892 ISOX 3 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE114883 0 V 5 ROMIDEPSIN HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS

GSE218773 ABL2 knockdown Hep-G2 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE158834 0 V 3 PALMITIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE168401 2 V 0 HARMINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE213588 9 V 13 TRAMETINIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE228430 FABP5 inhibition Huh-7 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE116810 5 V 1 SELINEXOR HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE162892 ISOX 3 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE181517 0 V 1 DOXORUBICIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE162892 ISOX 3 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE114883 0 V 5 ROMIDEPSIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

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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.