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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
Pah - phenylalanine hydroxylase
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
苯丙氨酸4-单加氧酶活性。预测参与L-苯丙氨酸代谢过程、蛋白质羟基化以及酪氨酸生物合成过程,通过苯丙氨酸的氧化作用。预测在L-苯丙氨酸分解过程的上游或内部发挥作用。在消化系统、肝脏和肝小叶中表达。用于研究苯丙酮尿症。该基因的人类同源物与智力障碍和苯丙酮尿症有关。与人类PAH(苯丙氨酸羟化酶)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:18478
ENSEMBL:ENSMUSG00000020051
UNIPROT:P16331
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
18478
1
13
62343 bp
51.90
15
13
Pah Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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