rs749918422

This variant is located in the AMPD2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters2 publications

Pontocerebellar hypoplasia type 9;Hereditary spastic paraplegia 63; Inborn genetic diseases

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About AMPD2

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]

View all AMPD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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