AMPD2
entrez
271
canonical
uniprot
Q01433
canonical
ensembl
ENSG00000116337
resolver
ensp
ENSP00000256578
resolver
ensp
ENSP00000345498
resolver
ensp
ENSP00000436541
resolver
ensp
ENSP00000437025
resolver
ensp
ENSP00000437164
resolver
genesymbol
AMPD2
resolver
hgnc
HGNC:469
resolver
uniprot
A0A5F9UK94
resolver
uniprot
B4DK50
resolver
uniprot
B4DZI5
resolver
uniprot
E9PNG0
resolver
uniprot
Q14856
resolver
uniprot
Q14857
resolver
uniprot
Q16686
resolver
uniprot
Q16687
resolver
uniprot
Q16688
resolver
uniprot
Q16729
resolver
uniprot
Q5T693
resolver
uniprot
Q5T695
resolver
uniprot
Q96IA1
resolver
uniprot
Q9UDX8
resolver
uniprot
Q9UDX9
resolver
uniprot
Q9UMU4
resolver
uniprot_entry
AMPD2_HUMAN
resolver
uniprot_sec
A0A5F9UK94
resolver
uniprot_sec
B4DK50
resolver
uniprot_sec
B4DZI5
resolver
uniprot_sec
E9PNG0
resolver
uniprot_sec
Q14856
resolver
uniprot_sec
Q14857
resolver
uniprot_sec
Q16686
resolver
uniprot_sec
Q16687
resolver
uniprot_sec
Q16688
resolver
uniprot_sec
Q16729
resolver
uniprot_sec
Q5T693
resolver
uniprot_sec
Q5T695
resolver
uniprot_sec
Q96IA1
resolver
uniprot_sec
Q9UDX8
resolver
uniprot_sec
Q9UDX9
resolver
uniprot_sec
Q9UMU4
resolver
amino_acid_sequence
MASYPSGSGKPKAKYPFKKRASLQASTAAPEARGGLGAPPLQSARSLPGPAPCLKHFPLDLRTSMDGKCKEIAEELFTRSLAESELRSAPYEFPEESPIEQLEERRQRLERQISQDVKLEPDILLRAKQDFLKTDSDSDLQLYKEQGEGQGDRSLRERDVLEREFQRVTISGEEKCGVPFTDLLDAAKSVVRALFIREKYMALSLQSFCPTTRRYLQQLAEKPLETRTYEQGPDTPVSADAPVHPPALEQHPYEHCEPSTMPGDLGLGLRMVRGVVHVYTRREPDEHCSEVELPYPDLQEFVADVNVLMALIINGPIKSFCYRRLQYLSSKFQMHVLLNEMKELAAQKKVPHRDFYNIRKVDTHIHASSCMNQKHLLRFIKRAMKRHLEEIVHVEQGREQTLREVFESMNLTAYDLSVDTLDVHADRNTFHRFDKFNAKYNPIGESVLREIFIKTDNRVSGKYFAHIIKEVMSDLEESKYQNAELRLSIYGRSRDEWDKLARWAVMHRVHSPNVRWLVQVPRLFDVYRTKGQLANFQEMLENIFLPLFEATVHPASHPELHLFLEHVDGFDSVDDESKPENHVFNLESPLPEAWVEEDNPPYAYYLYYTFANMAMLNHLRRQRGFHTFVLRPHCGEAGPIHHLVSAFMLAENISHGLLLRKAPVLQYLYYLAQIGIAMSPLSNNSLFLSYHRNPLPEYLSRGLMVSLSTDDPLQFHFTKEPLMEEYSIATQVWKLSSCDMCELARNSVLMSGFSHKVKSHWLGPNYTKEGPEGNDIRRTNVPDIRVGYRYETLCQELALITQAVQSEMLETIPEEAGITMSPGPQ
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination. {ECO:0000269|PubMed:23911318}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 63, autosomal recessive (SPG63) [MIM:615686]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:24482476}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.4.6
uniprot
proteins
function
FUNCTION: AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle. {ECO:0000269|PubMed:23911318}.
uniprot
proteins
mass_dalton
94890
uniprot
proteins
pathway_participation
PATHWAY: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1. {ECO:0000269|PubMed:23911318}.
uniprot
proteins
protein_family
Adenosine and AMP deaminases family
uniprot
proteins
protein_family
Metallo-dependent hydrolases superfamily
uniprot
proteins
pubmed
1429593
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23911318
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24482476
uniprot
proteins
pubmed
8526848
uniprot
proteins
pubmed
8764830
uniprot
proteins
sequence_length
825
uniprot
proteins