MTX2
entrez
10651
canonical
uniprot
O75431
canonical
ensembl
ENSG00000128654
resolver
ensp
ENSP00000249442
resolver
ensp
ENSP00000398757
resolver
ensp
ENSP00000771448
resolver
genesymbol
MTX2
resolver
hgnc
HGNC:7506
resolver
uniprot
A8JZZ4
resolver
uniprot
Q53S50
resolver
uniprot
Q53SQ2
resolver
uniprot
Q5M7Z6
resolver
uniprot
Q8IZ68
resolver
uniprot_entry
MTX2_HUMAN
resolver
uniprot_sec
A8JZZ4
resolver
uniprot_sec
Q53S50
resolver
uniprot_sec
Q53SQ2
resolver
uniprot_sec
Q5M7Z6
resolver
uniprot_sec
Q8IZ68
resolver
amino_acid_sequence
MSLVAEAFVSQIAAAEPWPENATLYQQLKGEQILLSDNAASLAVQAFLQMCNLPIKVVCRANAEYMSPSGKVPFIHVGNQVVSELGPIVQFVKAKGHSLSDGLEEVQKAEMKAYMELVNNMLLTAELYLQWCDEATVGEITHARYGSPYPWPLNHILAYQKQWEVKRKMKAIGWGKKTLDQVLEDVDQCCQALSQRLGTQPYFFNKQPTELDALVFGHLYTILTTQLTNDELSEKVKNYSNLLAFCRRIEQHYFEDRGKGRLS
uniprot
proteins
disease_involvement
DISEASE: Mandibuloacral dysplasia progeroid syndrome (MDPS) [MIM:619127]: A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MDPS is an autosomal recessive disorder. Clinical features include poor growth, osteoporosis, osteopenia, acroosteolysis of distal phalanges, arterial calcification, renal glomerulosclerosis and severe hypertension. {ECO:0000269|PubMed:32917887}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in transport of proteins into the mitochondrion. {ECO:0000269|PubMed:10381257}.
uniprot
proteins
mass_dalton
29763
uniprot
proteins
protein_family
Metaxin family
uniprot
proteins
pubmed
10381257
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22114354
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25997101
uniprot
proteins
pubmed
32917887
uniprot
proteins
sequence_length
263
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:10381257}. Mitochondrion {ECO:0000269|PubMed:25997101}.
uniprot
proteins