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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
Nsdhl - NAD(P) dependent steroid dehydrogenase-like
Alias:
Bpa
Str
H105E3
XAP104
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有氧化还原酶活性,作用于供体的CH-OH基团,以NAD或NADP为受体。在几个过程的上游或内部发挥作用,包括胆固醇代谢过程;毛囊发育;和迷路层血管的发育。位于内质网和脂质滴中。在几个结构中表达,包括胚外成分;眼睛;泌尿生殖系统;皮肤系统;和神经系统。用于研究Bloch-Sulzberger综合征和X连锁点状软骨发育异常1。这个基因的人类同源物涉及CHILD综合征和CK综合征。与人类NSDHL(NAD(P)依赖性固醇脱氢酶样)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:18194
ENSEMBL:ENSMUSG00000031349
UNIPROT:Q9R1J0
Basic Information
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Transcripts
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Length
MW (kDa)
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Reference
18194
1
8
40008 bp
40.69
14
13
Nsdhl Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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