Dolichol kinase
EC=2.7.1.108
N型、O型、GPIアンカー全ての合成に必須のドリコールリン酸マンノース合成に必須。
CTP + dolichol = CDP + dolichyl phosphate.
Congenital disorder of glycosylation 1M (CDG1M)
[MIM:610768]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1M is a very severe disease with death occurring in early life.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
EC=2.7.8.15
Alternative name(s):GlcNAc-1-P transferase
ドリコールPPオリゴ糖鎖合成の最初のステップを触媒する。（ALG7）
UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol.
Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093]:
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5
Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]:
A congenital myasthenic syndrome characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13
EC=2.4.1.141
EC=3.4.19.12
Isoform 1:Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities. Ref.7
Isoform 2:May be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway. Ref.7
UDP-N-acetyl-D-glucosamine + N-acetyl-D-glucosaminyl-diphosphodolichol = UDP + N,N'-diacetylchitobiosyl-diphosphodolichol.
Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
Isoform2はALG14と結合し、小胞体膜に局在する。
Congenital disorder of glycosylation 1S (CDG1S) [MIM:300884]:
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10
UDP-N-acetylglucosamine transferase subunit ALG14 homolog
Function
May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER. Ref.4
Chitobiosyldiphosphodolichol beta-mannosyltransferase
キトビオース（グルコサミン二分子からなる二糖）
Alternative name(s): Asparagine-linked glycosylation protein 1 homolog / Beta-1,4-mannosyltransferase
EC=2.4.1.142
Function
Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man5 intermediate on the cytoplasmic surface of the ER. Ref.1
Catalytic activity
GDP-mannose + chitobiosyldiphosphodolichol = GDP + beta-1,4-D-mannosylchitobiosyldiphosphodolichol.
Pathway
Protein modification; protein glycosylation.
Subcellular location
Endoplasmic reticulum membrane; Single-pass type II membrane protein Probable.
Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]:
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Note: The disease is caused by mutations affecting the gene represented in this entry.
