Ampd3 Gene Search Result

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
732010	AMPD3	adenosine monophosphate deaminase 3	This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isofor ... (more) ms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]	11	10450388	10507579	Human	232	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
735799	AMPD1	adenosine monophosphate deaminase 1	Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, res ... (more) pectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]	1	114673098	114695546	Human	163	description	gene, protein-coding, REVIEWED [RefSeq]