DISEASES

Disease-gene associations mined from literature

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Literature associating ARL6IP5 and Laurence-Moon syndrome

ARL6IP5 [ENSP00000273258]

ADP-ribosylation factor-like protein 6-interacting protein 5; Regulates intracellular concentrations of taurine and glutamate. Negatively modulates SLC1A1/EAAC1 glutamate transport activity by decreasing its affinity for glutamate in a PKC activity-dependent manner. May be involved in membrane traffic; YIP family

Synonyms:  ARL6IP5,  ARL6IP5p,  hARL6IP5,  A0A024R371,  B4DZZ0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.