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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
Alas2 - aminolevulinic acid synthase 2, erythroid
Alias:
ALAS
ALASE
ALAS-E
Alas-2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活5-氨基乙酰丙酸合酶活性。参与红细胞分化;血红素生物合成过程;和血红蛋白生物合成过程。在细胞内铁离子稳态上游发挥作用。位于线粒体中。在包括消化系统;大脑;泌尿生殖系统;血淋巴样系统腺体;肝脏和胆道系统在内的几个结构中表达。这个基因的人类同源物与皮肤卟啉症;红细胞生成原卟啉症;血色素沉着症;铁粒细胞性贫血;和铁粒细胞性贫血1有关。与人类ALAS2(5-氨基乙酰丙酸合酶2)的正交物同源。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:11656
ENSEMBL:ENSMUSG00000025270
UNIPROT:P08680
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
11656
8
12
23172 bp
64.75
4
7
Alas2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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