Mouse

Large1 - LARGE xylosyl- and glucuronyltransferase 1

Alias:
fg
enr
myd
Mbp1
Large
Mbp-1
froggy
BPFD#36
Gyltl1a
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
Enables glucuronosyltransferase activity and xylosyltransferase activity. Involved in several processes, including muscle cell cellular homeostasis; protein O-linked mannosylation; and skeletal muscle organ development. Located in intracellular membrane-bounded organelle. Is expressed in nervous system and retina. Used to study facioscapulohumeral muscular dystrophy; muscular dystrophy-dystroglycanopathy; and muscular dystrophy-dystroglycanopathy type B6. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A6 and muscular dystrophy-dystroglycanopathy type B6. Orthologous to human LARGE1 (LARGE xylosyl- and glucuronyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
5
16
538938 bp
87.96
6
12

Large1 Genetics information (-)

GRCm39

Sequence Homology

Transcripts & Proteins

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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.

Gene Expression

Tissue-specific RNA expression

Organ
Abundance
Alphabetical

Cell-specific RNA expression

Organ
Abundance
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Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

References Literature

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PMID
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Year
IF
No Data Found!
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