VARIANT: 23516v1
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Entry
23516v1 Variant
Name
SLC39A14 mutation
Gene
SLC39A14
solute carrier family 39 member 14 [KO:
K14720
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
608736
Network
nt06525
Ferroptosis
Disease
H01938
Hypermanganesemia with dystonia
Reference
PMID:
30232769
Authors
Zeglam A, Abugrara A, Kabuka M
Title
Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.
Journal
Acta Neurol Belg 119:379-384 (2019)
DOI:
10.1007/s13760-018-1024-7
Reference
PMID:
35641158
Authors
Wu K, Fei L, Wang X, Lei Y, Yu L, Xu W, Chen J, Zhu E, Zhong M, Huang M, Xi J, Yin F, Yan Z, Zhao X, Tang C, Patzak A, Liu X, Zheng Z
Title
ZIP14 is involved in iron deposition and triggers ferroptosis in diabetic nephropathy.
Journal
Metallomics 14:mfac034 (2022)
DOI:
10.1093/mtomcs/mfac034
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