ITPA (Gene)

Synonyms:C20orf37, DEE35, ENTREZ:3704, HGNC:6176, HLC14-06-P, ITPA, ITPase, MIM:147520, My049, NM_001267623, NM_001324236, NM_001324237, NM_001324238, NM_001324240, NM_001351739, NM_033453, NM_181493, NP_001254552, NP_001311165, NP_001311166, NP_001311167, NP_001311169, NP_001338668, NP_258412, NP_852470, NR_052000, NR_052002, NTPase, XM_006723564, XM_006723565, XM_011529234, XM_024451880, XP_006723627, XP_006723628, XP_011527536, XP_024307648, dJ794I6.3, inosine triphosphatase
Omim:OMIM:147520
Id:ENSG00000125877
Hgnc:HGNC:6176
Entrez:3704
Description:inosine triphosphatase
This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

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Data Distillery
CFDE DD-Knowledge Graph

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

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 ITPA.

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 ITPA.

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 ITPA.

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