Log In|Sign Up
中文人类
NPHP3 - Nephrocystin 3
Alias:
MKS7
NPH3
RHPD
RHPD1
SLSN3
CFAP31
Favorite
这个基因编码一个包含卷曲螺旋(CC)结构域、tubulin-酪氨酸连接酶(TTL)结构域和四三肽重复(TPR)结构域的蛋白质。编码的蛋白质与nephrin相互作用，对于正常的纤毛发育是必需的，并在肾小管发育中发挥作用。这个基因的突变与肾囊炎3型、肾肝胰腺发育异常和Meckel综合征7型有关。在这个基因和下游的ACAD11(酰基辅酶A脱氢酶家族11)基因之间自然发生的穿透转录本存在。[由RefSeq提供，2011年2月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NPHP3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
