GGDB:

ALG12は小胞体での脂質結合型糖鎖の合成に関わるアルファ1,6マンノース転移酵素をコードする。ドリコールリン酸マンノースが供与体基質として用いられる。ALG12は酵母のalg12欠損変異を補完する。ALG12の変異は先天性グリコシル化異常症１G型に関連する。

Keyword: 先天性グリコシル化異常症 , 脂質結合型糖鎖

	Dol-P-Man
JCGG-STR000133 GlyTouCan: G72103RY GlyCosmos Glycans: G72103RY		JCGG-STR000134 GlyTouCan: G48148JS GlyCosmos Glycans: G48148JS

Mannosyltransferases

GGDB Symbol

ALG12 Alias

Designation

Dol-P-Mannose:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase

Organism

Homo sapiens

GeneID

79087

HGNC

ALG12 (19358)

mRNA

NM_024105

map

22q13.33

Protein

NP_077010

EC#

2.4.1.130

CAZy

GT22

GlyCosmos Glycogenes

ALG12

OMIM

607144

Disease name

先天性糖鎖異常症Ig型

GDGDB

CON00349

Human Protein Atlas

ENSG00000182858

Mus musculus

mRNA	AJ429133
Protein	CAD22101

Rattus norvegicus

mRNA	XM_235555
Protein	XP_235555

Caenorhabditis elegans

mRNA	NM_072670
Protein	NP_505071

Drosophila melanogaster

mRNA	NM_141682
Protein	NP_649939

Saccharomyces cerevisiae

mRNA	Z71645
Protein	CAA96310

J. Biol. Chem. 2002-07-01 ;277(28):25815-22.

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.

Chantret I. et al. PMID:11983712

Hum. Mol. Genet. 2002-09-01 ;11(19):2331-9.

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.

Grubenmann CE. et al. PMID:12217961

RNA Expression from Human Protein Atlas

This RNA expression data uses "HPA data" from the Human Protein Atlas. Tissue RNA Expression

data available from v22.proteinatlas.org

Provided by GOA

Function
alpha-1,6-mannosyltransferase activity
dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity
mannosyltransferase activity

Process
dolichol-linked oligosaccharide biosynthetic process
mannosylation
protein N-linked glycosylation
protein folding

Component
endoplasmic reticulum
endoplasmic reticulum membrane
integral component of membrane
membrane

ALG12

Mannosyltransferases

Orthologous Gene

Mus musculus

Rattus norvegicus

Caenorhabditis elegans

Drosophila melanogaster

Saccharomyces cerevisiae

Acceptor Substrates (Reference)

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.

Acceptor Substrates (KEM-C)

Expression

Expression (Reference)

Gene Ontology