ISCA2
entrez
122961
canonical
uniprot
Q86U28
canonical
ensembl
ENSG00000165898
resolver
ensp
ENSP00000450523
resolver
ensp
ENSP00000452007
resolver
genesymbol
ISCA2
resolver
genesymbol_syn
HBLD1
resolver
hgnc
HGNC:19857
resolver
uniprot
A6NFF1
resolver
uniprot
A8K3W3
resolver
uniprot
G3V291
resolver
uniprot
Q8IYZ0
resolver
uniprot
Q96BB2
resolver
uniprot_entry
ISCA2_HUMAN
resolver
uniprot_sec
A6NFF1
resolver
uniprot_sec
A8K3W3
resolver
uniprot_sec
G3V291
resolver
uniprot_sec
Q8IYZ0
resolver
uniprot_sec
Q96BB2
resolver
amino_acid_sequence
MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQIRLTDSCVQRLLEITEGSEFLRLQVEGGGCSGFQYKFSLDTVINPDDRVFEQGGARVVVDSDSLAFVKGAQVDFSQELIRSSFQVLNNPQAQQGCSCGSSFSIKL
uniprot
proteins
disease_involvement
DISEASE: Multiple mitochondrial dysfunctions syndrome 4 (MMDS4) [MIM:616370]: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. {ECO:0000269|PubMed:25539947}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly. {ECO:0000269|PubMed:22323289}.
uniprot
proteins
mass_dalton
16476
uniprot
proteins
mutagenesis
MUTAGEN 79; /note="C->A: Abolishes the formation of the [2Fe-2S] ISCA2-IBA57 complex formation."; /evidence="ECO:0000269|PubMed:30269484"; MUTAGEN 144; /note="C->A: Abolishes the formation of the [2Fe-2S] ISCA2-IBA57 complex formation."; /evidence="ECO:0000269|PubMed:30269484"; MUTAGEN 146; /note="C->A: Abolishes the formation of the [2Fe-2S] ISCA2-IBA57 complex formation."; /evidence="ECO:0000269|PubMed:30269484
uniprot
proteins
protein_family
HesB/IscA family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22323289
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25539947
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30269484
uniprot
proteins
pubmed
31831856
uniprot
proteins
sequence_length
154
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22323289}.
uniprot
proteins