Log In|Sign Up
中文人类
PNKD - PNKD Metallo-beta-lactamase Domain Containing
Alias:
R1
MR1
PDC
DYT8
FPD1
MR-1
BRP17
MR-1S
PKND1
PNKD1
FKSG19
TAHCCP2
KIPP1184
Favorite
这个基因被认为在肌原纤维形成中起作用。这个基因的突变与阵发性非肌张力障碍性舞蹈症这一运动障碍性疾病有关。可变剪接产生了多种转录子变异体。[RefSeq,2010年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PNKD 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
