ALG12

GENE INFORMATION

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Gene name

ALG12 (HGNC Symbol)

Synonyms

ECM39

Description

ALG12, alpha-1,6-mannosyltransferase (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

Chromosome

22 (Chromosome progress)

Cytoband

q13.33

Chromosome location (bp)

50296867 - 50312106

Ensembl

ENSG00000182858 (version 73.37)

Entrez gene

79087

UniProt

Q9BV10 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BV10

Antibodypedia

ALG12 antibodies
 

PROTEIN VIEW

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ALG12-001
 
ALG12-002
 
ALG12-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALG12-001 ENSP00000333813
ENST00000330817
Q9BV10
Show all »
Show » Show » 488 54.7 Yes >9
ALG12-002 ENSP00000417387
ENST00000492791
Show » Show » 196 22 No 5
ALG12-003 ENSP00000420630
ENST00000486602
Show » Show » 205 22.7 No 3