VARIANT: 55240v1
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Entry
55240v1 Variant
Name
STEAP3 mutation
Gene
STEAP3
STEAP3 metalloreductase [KO:
K10142
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
609671
Network
nt06525
Ferroptosis
Disease
H01196
Hypochromic microcytic anemia
Reference
PMID:
22031863
Authors
Grandchamp B, Hetet G, Kannengiesser C, Oudin C, Beaumont C, Rodrigues-Ferreira S, Amson R, Telerman A, Nielsen P, Kohne E, Balser C, Heimpel H
Title
A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.
Journal
Blood 118:6660-6 (2011)
DOI:
10.1182/blood-2011-01-329011
Reference
PMID:
35459211
Authors
Wu L, Tian X, Zuo H, Zheng W, Li X, Yuan M, Tian X, Song H
Title
miR-124-3p delivered by exosomes from heme oxygenase-1 modified bone marrow mesenchymal stem cells inhibits ferroptosis to attenuate ischemia-reperfusion injury in steatotic grafts.
Journal
J Nanobiotechnology 20:196 (2022)
DOI:
10.1186/s12951-022-01407-8
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