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dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase gene (ALG3 gene)
3q27.1
Pathology:
- defects in ALG3 associated with congenital disorder of glycosylation type 1D ALG3 also maps to presenilin 2 gene
Related
dol-P-man:man(5)GlcNAc(2)-PP-dol alpha-1,3-mannosyltransferase; asparagine-linked glycosylation protein 3 homolog; dol-P-man-dependent alpha(1-3)-mannosyltransferase; dolichyl-P-man:man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase; dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase; not56-like protein (ALG3, NOT, NOT56L)
presenilin-2 (PS-2) gene (E5-1, STM2, ALG-3 {mouse homolog})
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: dol-P-man:man(5)GlcNAc(2)-PP-dol alpha-1,3-mannosyltransferase
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM correlations
MORBIDMAP 608750
Entrez Gene 10195
References
- OMIM :accession 601110
- OMIM :accession 608750
- UniProt :accession Q92685