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中文人类
SLC25A19 - Solute Carrier Family 25 Member 19
Alias:
DNC
TPC
MUP1
MCPHA
MTPPT
THMD3
THMD4
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这个基因编码一种线粒体蛋白质，是溶质载体家族的成员。尽管这个蛋白质最初被认为是参与脱氧核苷酸进入线粒体基质中的线粒体脱氧核苷酸载体，但进一步的研究已经证明这个蛋白质实际上作为线粒体硫胺素焦磷酸盐载体发挥作用，将硫胺素焦磷酸盐运输到线粒体中。这个基因的突变导致Amish型小头畸形，这是一种代谢疾病，导致严重的先天性小头畸形、严重的2-酮戊二酸尿症，并在一年内死亡。已经发现了这个基因的多个可变剪接变异体，编码相同的蛋白质。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SLC25A19 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
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
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