ADSL (Gene)

Synonyms:ADSL, AMPS, ASASE, ASL, ENTREZ:158, HGNC:291, MIM:608222, NM_000026, NM_001123378, NM_001317923, NM_001363840, NP_000017, NP_001116850, NP_001304852, NP_001350769, NR_134256, XM_011529977, XM_011529980, XM_017028636, XM_017028637, XM_017028638, XM_017028639, XM_017028640, XM_024452166, XP_011528279, XP_011528282, XP_016884125, XP_016884126, XP_016884127, XP_016884128, XP_016884129, XP_024307934, XR_001755176, XR_002958670, XR_002958671, XR_937825, adenylosuccinate lyase
Omim:OMIM:608222
Id:ENSG00000239900
Hgnc:HGNC:291
Entrez:158
Description:adenylosuccinate lyase
The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

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Data Distillery
CFDE DD-Knowledge Graph

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

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 ADSL.

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 ADSL.

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 ADSL.

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