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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
SLC39A14 - Solute Carrier Family 39 Member 14
Alias:
HCIN
NET34
ZIP14
cig19
HMNDYT2
LZT-Hs4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码SLC39A家族的二价金属转运蛋白成员,该成员调节锰、锌、铁和镉的细胞摄入。编码的蛋白质含有八个跨膜结构域、一个富含组氨酸的基序和一个金属蛋白酶基序,并在质膜和内吞囊泡膜上表达。它是不转移铁结合铁的重要转运蛋白,并对锰稳态进行关键调节。这个基因中自然发生的突变与脑铁积聚相关的神经退化和早发性帕金森病-肌张力障碍伴高锰血症有关。[由RefSeq提供,2017年5月]
Related ID:
NCBI:23516
ENSEMBL:ENSG00000104635
HGNC:20858
UNIPROT:Q15043
OMIM:608736
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23516
14
9
66852 bp
54.21
184
2
10
22
SLC39A14 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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