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中文人类
GALT - Galactose-1-phosphate Uridylyltransferase
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半乳糖-1-磷酸尿苷转移酶（GALT）是Leloir半乳糖代谢途径的第二个步骤，即UDP-葡萄糖+半乳糖-1-磷酸转化为葡萄糖-1-磷酸+ UDP-半乳糖。这种酶的缺乏导致人类典型的半乳糖血症，如果母乳中的乳糖不被去除，新生儿时期可能是致命的。半乳糖血症的病理生理学尚未明确。已发现该基因编码两种不同异构体的两种转录变异体。[由RefSeq，2012年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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GALT Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
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Mutations
Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
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Cell-specific RNA expression
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References Literature
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