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中文人类
SLC19A3 - Solute Carrier Family 19 Member 3
Alias:
BBGD
THMD2
THTR2
hTHTR2
thTr-2
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这个基因编码一种泛表达膜硫胺转运蛋白，缺乏叶酸转运活性。这个基因的突变导致生物素响应性基底节疾病（BBGD）；这是一种在童年期表现的隐性疾病，如果不治疗，将发展为慢性脑病、肌张力障碍、四肢瘫痪和死亡。患有BBGD的患者在尾状核头部和壳核出现双侧坏死。在疾病早期进展中给予高剂量的生物素可以消除病理症状，而延迟治疗会导致残余的四肢无力、轻度认知障碍或肌张力障碍。硫胺的治疗对此病无效。实验未能证明此蛋白能运输生物素。这个基因的突变也会导致一种Wernicke样脑病。[RefSeq，2010年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SLC19A3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
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References Literature
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