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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
人类
SPAG1 - Sperm Associated Antigen 1
Alias:
SP75
TPIS
CT140
CILD28
DNAAF13
HSD-3.8
HEL-S-268
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
抗精子抗体与不明原因不育病例的相关性暗示了这些抗体在阻止受精中的作用。免疫不育的诊断和治疗改善,以及寻找靶向避孕的蛋白质,都依赖于识别和特征化相关的精子抗原。这个基因编码的蛋白质被一个不育妇女的抗精子凝集抗体识别。此外,用该重组人蛋白质免疫雌性大鼠会降低生育能力。这个蛋白质定位在睾丸的生殖细胞质膜和成熟精子的顶体外质膜。重组多肽结合GTP并展示GTP酶活性。因此,这个蛋白质可能调节与精子发生和受精有关的GTP信号转导途径。这个基因的两个转录变异体编码相同的蛋白质。[RefSeq,2008年7月提供]
Related ID:
NCBI:6674
ENSEMBL:ENSG00000104450
HGNC:11212
UNIPROT:Q07617
OMIM:603395
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6674
11
19
83867 bp
103.64
363
3
3
9
SPAG1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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