Log In|Sign Up
中文小鼠
Gaa - glucosidase, alpha, acid
Alias:
E430018M07Rik
Favorite
这个基因编码一种溶酶体的酸性葡萄糖苷酶，参与糖原的降解。编码的前原原蛋白经过蛋白水解加工，生成成熟的酶，该酶切割糖原、麦芽糖和溶酶体内的中间寡糖的α-1-4和α-1-6糖苷键。缺乏编码蛋白的小鼠表现出类似于人类庞贝综合症的症状，如心肌和骨骼肌溶酶体内的糖原积累，导致活动能力和力量减弱。这个基因的可变剪接导致多个转录变异体。[RefSeq, Nov 2015提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
Gaa Genetics information (+)
GRCm39
Sequence Homology
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
References Literature
Title
PMID
Journal
Year
IF
