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中文人类
NYX - Nyctalopin
Alias:
CLRP
NBM1
CSNB1
CSNB4
CSNB1A
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这个基因的产物属于富含小亮氨酸的蛋白聚糖（SLRP）家族蛋白质。这个基因的缺陷是导致先天性静止性夜盲1型（CSNB1），也称为X-连锁先天性静止性夜盲（XLCSNB）的原因。CSNB1是一种罕见的遗传性视网膜疾病，以暗视力受损、近视、远视、眼球震颤和视力减退为特征。其他SLRP蛋白质的作用表明，这个基因的突变破坏了涉及ON-双极细胞的发育视网膜连接，导致患有完全CSNB的患者出现视觉丧失。[RefSeq,2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NYX Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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References Literature
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