Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	522	16q24.3	GALNS	galactosamine (N-acetyl)-6-sulfatase
Mouse	-	520	8 E1	Galns	galactosamine (N-acetyl)-6-sulfatase
Rat	-	524	19q12	Galns	galactosamine (N-acetyl)-6-sulfatase

Previous and Unofficial Names

N-acetylgalactosamine-6-sulfatase | galactosamine (N-acetyl)-6-sulfate sulfatase

Database Links
Alphafold	P34059 (Hs), Q571E4 (Mm), Q32KJ6 (Rn)
BRENDA	3.1.6.4
CATH/Gene3D	3.40.720.10
ChEMBL Target	CHEMBL4523218 (Hs)
Ensembl Gene	ENSG00000141012 (Hs), ENSMUSG00000015027 (Mm), ENSRNOG00000014461 (Rn)
Entrez Gene	2588 (Hs), 50917 (Mm), 292073 (Rn)
Human Protein Atlas	ENSG00000141012 (Hs)
KEGG Enzyme	3.1.6.4
KEGG Gene	hsa:2588 (Hs), mmu:50917 (Mm), rno:292073 (Rn)
OMIM	612222 (Hs)
Pharos	P34059 (Hs)
RefSeq Nucleotide	NM_000512 (Hs), NM_016722 (Mm), NM_001047851 (Rn)
RefSeq Protein	NP_000503 (Hs), NP_057931 (Mm), NP_001041316 (Rn)
UniProtKB	P34059 (Hs), Q571E4 (Mm), Q32KJ6 (Rn)
Wikipedia	GALNS (Hs)

Enzyme Reaction
EC Number: 3.1.6.4

Physiological Functions
GALNS catalyses the hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate. Species:  Human Tissue:  placenta References:  2

Clinically-Relevant Mutations and Pathophysiology

Disease:  Mucopolysaccharidosis type IVA Disease Ontology: DOID:12804 OMIM: 253000 Orphanet: ORPHA582 Role:  Autosomal recessive transmission of GALNS inactivating mutations causes an inability to degrade keratan sulfate, resulting in progressive skeletal deformities during childhood. Drugs:  Elosulfase alfa Therapeutic use:  Elosufase alfa is a recombinant enzyme replacement therapy. References:  1,3