PPA2
entrez
27068
canonical
uniprot
Q9H2U2
canonical
ensembl
ENSG00000138777
resolver
ensp
ENSP00000313061
resolver
ensp
ENSP00000340352
resolver
ensp
ENSP00000343885
resolver
ensp
ENSP00000389957
resolver
genesymbol
PPA2
resolver
hgnc
HGNC:28883
resolver
uniprot
B4DLP7
resolver
uniprot
F8WDN9
resolver
uniprot
I6L9B6
resolver
uniprot
Q4W5E9
resolver
uniprot
Q6PG51
resolver
uniprot
Q8TBW0
resolver
uniprot
Q96E55
resolver
uniprot
Q9H0T0
resolver
uniprot
Q9NX37
resolver
uniprot
Q9P033
resolver
uniprot
Q9ULX0
resolver
uniprot_entry
IPYR2_HUMAN
resolver
uniprot_sec
B4DLP7
resolver
uniprot_sec
F8WDN9
resolver
uniprot_sec
I6L9B6
resolver
uniprot_sec
Q4W5E9
resolver
uniprot_sec
Q6PG51
resolver
uniprot_sec
Q8TBW0
resolver
uniprot_sec
Q96E55
resolver
uniprot_sec
Q9H0T0
resolver
uniprot_sec
Q9NX37
resolver
uniprot_sec
Q9P033
resolver
uniprot_sec
Q9ULX0
resolver
amino_acid_sequence
MSALLRLLRTGAPAAACLRLGTSAGTGSRRAMALYHTEERGQPCSQNYRLFFKNVTGHYISPFHDIPLKVNSKEENGIPMKKARNDEYENLFNMIVEIPRWTNAKMEIATKEPMNPIKQYVKDGKLRYVANIFPYKGYIWNYGTLPQTWEDPHEKDKSTNCFGDNDPIDVCEIGSKILSCGEVIHVKILGILALIDEGETDWKLIAINANDPEASKFHDIDDVKKFKPGYLEATLNWFRLYKVPDGKPENQFAFNGEFKNKAFALEVIKSTHQCWKALLMKKCNGGAINCTNVQISDSPFRCTQEEARSLVESVSSSPNKESNEEEQVWHFLGK
uniprot
proteins
disease_involvement
DISEASE: Sudden cardiac failure, alcohol-induced (SCFAI) [MIM:617223]: An autosomal recessive disease characterized by sudden death due to unexpected cardiac arrest following ingestion of small amounts of alcohol. {ECO:0000269|PubMed:27523597}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Sudden cardiac failure, infantile (SCFI) [MIM:617222]: A disease characterized by sudden death within the first 2 years of life due to unexpected cardiac arrest. Some patients manifest hypertrophic cardiomyopathy, lipid accumulation in myocardium, degeneration of mitochondrial cristae, metabolic acidosis, and elevated plasma lactate levels. SCFI transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:27523597, ECO:0000269|PubMed:27523598}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.1
uniprot
proteins
function
FUNCTION: Hydrolyzes inorganic pyrophosphate (PubMed:27523597). This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598). {ECO:0000269|PubMed:27523597, ECO:0000269|PubMed:27523598}.
uniprot
proteins
mass_dalton
37920
uniprot
proteins
protein_family
PPase family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15210126
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27523597
uniprot
proteins
pubmed
27523598
uniprot
proteins
sequence_length
334
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:27523597}.
uniprot
proteins