PFKM (Gene)

Synonyms:ATP-PFK, ENTREZ:5213, GSD7, HGNC:8877, MIM:610681, NM_000289, NM_001166686, NM_001166687, NM_001166688, NM_001354735, NM_001354736, NM_001354737, NM_001354738, NM_001354739, NM_001354740, NM_001354741, NM_001354742, NM_001354743, NM_001354744, NM_001354745, NM_001354746, NM_001354747, NM_001354748, NM_001363619, NP_000280, NP_001160158, NP_001160159, NP_001160160, NP_001341664, NP_001341665, NP_001341666, NP_001341667, NP_001341668, NP_001341669, NP_001341670, NP_001341671, NP_001341672, NP_001341673, NP_001341674, NP_001341675, NP_001341676, NP_001341677, NP_001350548, NR_148954, NR_148955, NR_148956, NR_148957, NR_148958, NR_148959, PFK-1, PFK-A, PFK1, PFKA, PFKM, PFKX, PPP1R122, XM_005268974, XM_005268976, XM_005268979, XM_011538487, XM_017019469, XM_024449020, XM_024449021, XM_024449022, XP_005269031, XP_005269033, XP_005269036, XP_011536789, XP_016874958, XP_024304788, XP_024304789, XP_024304790, phosphofructokinase, muscle
Omim:OMIM:610681
Id:ENSG00000152556
Hgnc:HGNC:8877
Entrez:5213
Description:phosphofructokinase, muscle
Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

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Data Distillery
CFDE DD-Knowledge Graph

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

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

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

Gene Partnership Appyter
CFDE Gene-Centric Appyter

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

Gene and Drug Landing Page Aggregator
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 PFKM.

Playbook Workflow Builder
Playbook Workflow Builder

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

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