Gene Symbol | AMPD2 |
Entrez Gene ID | 271 |
Full Name | adenosine monophosphate deaminase 2 |
Synonyms | PCH9,SPG63 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | ?Spastic paraplegia 63, 615686 (3); Pontocerebellar hypoplasia, type 9, 615809 (3) |