Adsl Gene Search Result

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Genes search result for Homo sapiens
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2 records found for search term Adsl

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1316916	ADSL	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 car ... (more) boxamide 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]	22	40346500	40387527	Human	299	symbol , COSMIC , description , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
16554594	AL022238.2	novel transcript, antisense to SGSM3 and ADSL					Human		name	gene, lncrna