The gene ampd2 encodes an enzyme, adenosine monophosphate deaminase 2. this protein catalyzes the hydrolytic deamination of adenosine monophosphate (AMP) to inosine monophosphate (IMP). it is expressed...[+]

The gene ampd2 encodes an enzyme, adenosine monophosphate deaminase 2. this protein catalyzes the hydrolytic deamination of adenosine monophosphate (AMP) to inosine monophosphate (IMP). it is expressed during early development and localizes to the cytoplasm. expression is found in the brain, eye, oocyte, and testis. [-]

             hereditary spastic paraplegia 63

          SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE; SPG63

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD