MOGS_HUMAN
Source:
BSc_CH
Marked as 'Integral membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
MOGS
, GCS1
Protein names and data:
MOGS_HUMAN
, Mannosyl-oligosaccharide glucosidase; 3.2.1.106
, Processing A-glucosidase I
Lenght: 837 a.a.
Mass: 91918 Da
fasta formatted sequence
Function:
Cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner.
Catalytic activity:
Exohydrolysis of the non-reducing terminal glucose residues in the mannosyl-oligosaccharide Glc(3)Man(9)GlcNAc(2).
Pathway:
Glycan metabolism; N-glycan degradation.
Disease:
( OMIM:
601336
606056
)
Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]: Characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms of the infant included hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course was progressive and the infant did not survive more than a few months. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Genetic variants
222 - 222
G -> R (in dbSNP:rs3213671). VAR_049233
3213671
236 - 236
E -> Q (in dbSNP:rs1063587). VAR_019361
1063587
239 - 239
D -> N (in dbSNP:rs1063588). VAR_019362
1063588
293 - 293
P -> S (in dbSNP:rs2268416). VAR_049234
2268416
486 - 486
R -> T (in CDGIIb; loss of activity). VAR_018966
495 - 495
R -> P (in dbSNP:rs34075781). VAR_049235
34075781
652 - 652
F -> L (in CDGIIb; loss of activity). VAR_018967
785 - 785
G -> S (in dbSNP:rs35533773). VAR_049236
35533773
Database cross-references
UniProt:
Q13724
Ensembl:
ENST00000233616
Ensembl:
ENST00000452063
MIM:
601336
MIM:
606056
neXtProt:
NX_Q13724
Antibodypedia:
Q13724
(may not find the protein thus also not any antibody)
Local full text data:
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