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中文人类
FAM111B - FAM111 Trypsin Like Peptidase B
Alias:
CANP
POIKTMP
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这个基因编码一个在C端具有类似胰蛋白酶的半胱氨酸/丝氨酸肽酶结构域的蛋白质。这个基因的突变与常染色体显性遗传性纤维化诗凯洛德病（HFP）有关。受影响的个体显示斑疹色素沉着、毛细血管扩张、表皮萎缩、肌腱挛缩和进行性肺纤维化。可变剪接导致编码不同异质体的多种转录变异体。这个基因的副产品也具有类似胰蛋白酶的肽酶结构域，FAM111A，在人染色体11q12.1上仅距离这个基因16kb。[由RefSeq，2014年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
FAM111B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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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
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
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Target
Residues
Reference
Score
Related Mouse Models
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Name
MGI
Strain of Origin
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Mutations
Related Drugs
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CAS Number
Status
Phase
Link
References Literature
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PMID
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