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中文人类
DBH - Dopamine Beta-hydroxylase
Alias:
DBM
ORTHYP1
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这个基因编码的蛋白质是一种属于铜II型、抗坏血酸依赖型单加氧酶家族的氧化还原酶。该编码蛋白质在神经分泌囊泡和肾上腺髓质的色汗颗粒中表达，催化多巴胺转化为去甲肾上腺素，去甲肾上腺素既作为激素又作为交感神经系统的主要神经递质。这个基因编码的酶以可溶性和膜结合的形式存在，这取决于是否存在信号肽。这个基因的突变导致人类患者多巴胺β-羟化酶缺乏，其特征是自主和心血管功能缺陷，包括低血压和上睑下垂。这个基因的多态性可能在多种精神障碍中发挥作用。[RefSeq，2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DBH 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
