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中文人类
UNC13D - Unc-13 Homolog D
Alias:
FHL3
HLH3
HPLH3
Munc13-4
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这个基因编码一个蛋白质，是UNC13家族的成员，与其他家族成员具有相似的结构域，但缺乏其他Munc13蛋白质中存在的N端酚醇酯结合C1结构域。该蛋白质似乎在分泌过程中在囊泡成熟中发挥作用，并涉及调节细胞溶解颗粒的分泌。这个基因的突变与家族性噬血细胞综合征3型有关，这是一种遗传异质性、罕见的常染色体隐性疾病。[由RefSeq提供，2008年7月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
UNC13D 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
