ABCC6 (Gene)

Organism:

Homo sapiens

Synonyms:ABC34, ABCC6, ARA, ATP binding cassette subfamily C member 6, ENTREZ:368, EST349056, GACI2, HGNC:57, MIM:603234, MLP1, MOAT-E, MOATE, MRP6, NM_001079528, NM_001171, NM_001351800, NP_001072996, NP_001162, NP_001338729, NR_147784, PXE, PXE1, URG7, XM_011522479, XM_011522480, XM_011522481, XM_011522482, XM_017023212, XM_017023214, XM_024450261, XP_011520781, XP_011520782, XP_011520783, XP_011520784, XP_016878701, XP_016878703, XP_024306029, XR_932836, XR_932837, XR_932838

Id:ENSG00000275331

Description:ATP binding cassette subfamily C member 6 [Source:HGNC Symbol;Acc:HGNC:57]

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View ABCC6'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 ABCC6.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using ABCC6.

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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 ABCC6.

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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 ABCC6.

Results found

Linked to

	Label	Description
	Hypertension Phenotype (Entity type)	The presence of chronic increased pressure in the systemic arterial system.
	Arthralgia Phenotype (Entity type)	Joint pain.
	Peripheral arterial stenosis Phenotype (Entity type)	Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quan...
	Retinopathy Phenotype (Entity type)	Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wid...
	Stroke Phenotype (Entity type)	Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to t...
	Atherosclerosis Phenotype (Entity type)	A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls ...

Hypertension

Phenotype (Entity type)

The presence of chronic increased pressure in the systemic arterial system.

Arthralgia

Phenotype (Entity type)

Joint pain.

Peripheral arterial stenosis

Phenotype (Entity type)

Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quan...

Retinopathy

Phenotype (Entity type)

Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wid...

Stroke

Phenotype (Entity type)

Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to t...

Atherosclerosis

Phenotype (Entity type)

A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls ...

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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

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