GALNS

GENE INFORMATION

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Gene name

GALNS (HGNC Symbol)

Synonyms

GALNAC6S, GAS

Description

Galactosamine (N-acetyl)-6-sulfate sulfatase (HGNC Symbol)

Entrez gene summary

This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]

Chromosome

16

Cytoband

q24.3

Chromosome location (bp)

88880142 - 88923378

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000141012 (version 75.37)

Entrez gene

2588

UniProt

P34059 (UniProt - Evidence at protein level)

neXtProt

NX_P34059

Antibodypedia

GALNS antibodies
 

PROTEIN VIEW

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GALNS-001
 
GALNS-002
 
GALNS-005
 
GALNS-006
 
GALNS-008
 
GALNS-009
 
GALNS-201
 
 
 
 
 

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)

GALNS-001 ENSP00000268695
ENST00000268695
P34059
Show all »
Show » Show » 522 58 Yes 0
GALNS-002 ENSP00000455006
ENST00000568311
H3BNU2
Show all »
Show » 116 12.3 Yes 0
GALNS-005 ENSP00000457921
ENST00000568613
H3BV24
Show all »
Show » 51 5.6 No 0
GALNS-006 ENSP00000454484
ENST00000567525
Q6MZF5
Show all »
Show » 69 7.4 No 0
GALNS-008 ENSP00000456884
ENST00000569433
H3BSU9
Show all »
Show » 78 8.2 Yes 0
GALNS-009 ENSP00000455174
ENST00000562831
H3BP66
Show all »
Show » Show » 170 19.4 No 0
GALNS-201 ENSP00000438197
ENST00000542788
F5H325
Show all »
Show » Show » 447 49.8 Yes 0