Log In|Sign Up
中文人类
ABHD12 - Abhydrolase Domain Containing 12, Lysophospholipase
Alias:
PHARC
ABHD12A
BEM46L2
hABHD12
C20orf22
dJ965G21.2
Favorite
这个基因编码一种催化2-AG水解的酶，2-AG是主要的内大麻素脂质递质，作用于大麻素受体CB1和CB2。内源性大麻素系统参与广泛的生理过程，包括神经传递、情绪、食欲、疼痛感知、成瘾行为和炎症。这个基因的突变与神经退行性疾病PHARC（多神经病、听力丧失、共济失调、视网膜色素变性、白内障）有关，这是由于内源性大麻素代谢的先天性错误引起的。这个基因有不同的剪接转录变异体，编码不同的异构体。[RefSeq，2011年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ABHD12 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
