P3H1 (Gene)

Synonyms:ENTREZ:64175, GROS1, HGNC:19316, LEPRE1, MIM:610339, NM_001146289, NM_001243246, NM_022356, NP_001139761, NP_001230175, NP_071751, OI8, P3H1, XM_005271110, XM_011541948, XM_017002051, XM_017002052, XP_005271167, XP_011540250, XP_016857540, XP_016857541, XR_946739, prolyl 3-hydroxylase 1
Omim:OMIM:610339
Id:ENSG00000117385
Hgnc:HGNC:19316
Entrez:64175
Description:prolyl 3-hydroxylase 1
This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View P3H1'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 P3H1.

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 P3H1.

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 P3H1.

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 P3H1.

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