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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
小鼠
Galt - galactose-1-phosphate uridyl transferase
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质是Leloir途径中的第二个酶,该途径是D-半乳糖代谢途径。它催化半乳糖-1-磷酸和尿苷二磷酸葡萄糖转化为葡萄糖-1-磷酸和尿苷二磷酸半乳糖。这种酶的缺乏导致遗传代谢紊乱半乳糖血症。缺乏这种蛋白质的小鼠会积累高浓度的半乳糖和半乳糖-1磷酸,但它们是存活的且能繁殖。该蛋白质通过多肽激素催乳素的信号传导负调控,具体是通过催乳素受体的短异构体和转录因子翼状盒O3。可选的剪接导致多个转录变异体。[由RefSeq,2014年10月提供]
Related ID:
NCBI:14430
ENSEMBL:ENSMUSG00000036073
UNIPROT:Q03249
Basic Information
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Transcripts
Exons
Length
MW (kDa)
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14430
9
11
3727 bp
43.23
7
10
Galt Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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