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中文人类
PTCH1 - Patched 1
Alias:
PTC
BCNS
PTC1
PTCH
NBCCS
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这个基因编码补丁家族蛋白质成员，也是海绵宝宝信号通路的一部分。海绵宝宝信号通路在胚胎发育和肿瘤发生中起着重要作用。编码的蛋白质是分泌的海绵宝宝配体的受体，包括音速海绵宝宝、印度海绵宝宝和沙漠海绵宝宝。与一个海绵宝宝配体结合后，编码的蛋白质被转运离开初级纤毛，解除对G蛋白偶联受体平滑肌素的抑制，导致下游信号的激活。这个基因的突变与基底细胞痣综合症和全前脑发育不良有关。[RefSeq，2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PTCH1 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
