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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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人类
PRH1 - Proline Rich Protein HaeIII Subfamily 1
Alias:
PA
Db-s
PRH2
PIF-S
Pr1/Pr2
PRP-1/PRP-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个异质家族成员,包括富含脯氨酸的唾液糖蛋白。编码的前原原蛋白在从腮腺和下颌/舌下腺分泌之前,经过蛋白水解处理产生一个或多个成熟的异构体。这个位置的多个不同的等位基因,包括腮腺等电聚焦变异体慢速(PIF-s)、腮腺酸性蛋白(Pa)和双重带慢速(Db-s)等位基因已经被表征。参考基因组编码Db-s等位基因。这个基因的某些等位基因与牙釉质抗药性有关。这个基因位于染色体12上一组密切相关的唾液富含脯氨酸蛋白中。这个基因与相邻基因的共转录已经被观察到。这个基因的可变剪接导致编码不同异构体的多种转录变异体。[由RefSeq,2015年10月提供]
Related ID:
NCBI:5554
ENSEMBL:ENSG00000231887
HGNC:9366
UNIPROT:P02810
OMIM:168730
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5554
3
4
290647 bp
17.02
147
--
--
20
PRH1 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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