GALNS (galactosamine (N-acetyl)-6-sulfatase)

2014-11-01  

Identity

HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
GALNAC6S,GAS,GalN6S,MPS4A
FUSION GENES

Other Information

Locus ID:

NCBI: 2588
MIM: 612222
HGNC: 4122
Ensembl: ENSG00000141012

Variants:

dbSNP: 2588
ClinVar: 2588
TCGA: ENSG00000141012
COSMIC: GALNS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141012ENST00000268695P34059
ENSG00000141012ENST00000562831H3BP66
ENSG00000141012ENST00000567525Q6MZF5
ENSG00000141012ENST00000568311H3BNU2
ENSG00000141012ENST00000568613H3BV24
ENSG00000141012ENST00000569433H3BSU9

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Glycosaminoglycan degradationKEGGko00531
Glycosaminoglycan degradationKEGGhsa00531
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Chondroitin sulfate degradationKEGGhsa_M00077
Keratan sulfate degradationKEGGhsa_M00079
Chondroitin sulfate degradationKEGGM00077
Keratan sulfate degradationKEGGM00079
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166159062elosulfase alfaChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
162870982005Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).37
229403672012The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.28
182853412008Distinct effects of N-acetylgalactosamine-4-sulfatase and galactose-6-sulfatase expression on chondroitin sulfates.19
273809952016Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.19
247261772014Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.13
251376222014Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.12
193942562009Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients.11
205744282010Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.11
152418072004Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.10

Citation

Dessen P

GALNS (galactosamine (N-acetyl)-6-sulfatase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63681/galns