Log In|Sign Up
中文人类
GALE - UDP-galactose-4-epimerase
Alias:
SDR1E1
Favorite
这个基因编码了UDP-半乳糖-4-异构酶，它催化两个不同的但类似的反应：UDP-葡萄糖到UDP-半乳糖的异构化，以及UDP-乙酰氨基葡萄糖到UDP-乙酰氨基半乳糖的异构化。酶的双功能特性具有重要的代谢后果，即突变细胞（或个体）不仅依赖外源半乳糖，而且依赖外源N-乙酰氨基半乳糖作为合成糖蛋白和糖脂的必要前体。这个基因的突变会导致异构酶缺乏半乳糖血症，也称为半乳糖血症3型，这是一种以肝脏损伤、早期白内障、听力丧失和认知障碍为特征的疾病，症状从轻微（"周围"形式）到严重（"全身"形式）不等。已经识别出编码相同蛋白质的多种可变剪接转录本。[由RefSeq提供，2008年7月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GALE 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
