Galactosamine-6 sulfatase

Galactosamine-6 sulfatase
Galactosamine (N-acetyl)-6-sulfate sulfatase
Symbols GALNS; FLJ17434; FLJ42844; FLJ98217; GALNAC6S; GAS; MPS4A
External IDs OMIM612222 MGI1355303 HomoloGene55468 GeneCards: GALNS Gene
EC number
RNA expression pattern
PBB GE GALNS 206335 at tn.png
More reference expression data
Species Human Mouse
Entrez 2588 50917
Ensembl ENSG00000141012 ENSMUSG00000015027
UniProt P34059 Q571E4
RefSeq (mRNA) NM_000512.4 NM_016722
RefSeq (protein) NP_000503.1 NP_057931
Location (UCSC) Chr 16:
88.88 – 88.92 Mb
Chr 8:
125.1 – 125.14 Mb
PubMed search [1] [2]

N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.[1][2]

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.[2]


  1. ^ Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, et al. (Jan 1992). "Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase". Biochem Biophys Res Commun 181 (2): 677–83. doi:10.1016/0006-291X(91)91244-7. PMID 1755850. 
  2. ^ a b "Entrez Gene: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)". 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.Template:Iuiuyih78

Template:PBB Controlsy8=0j8y

Wikimedia Foundation. 2010.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • galactosamine-6-sulfatase — gal·ac·to·sa·mine 6 sul·fa·tase (gal″ak toґsə mēn sulґfə tās) N acetylgalactosamine 6 sulfatase …   Medical dictionary

  • Sulfatase — Pfam box Symbol = Sulfatase Name = width =200 caption =Steryl sulfatase Pfam= PF00884 InterPro= IPR000917 SMART= PROSITE = PDOC00117 SCOP = 1auk TCDB = OPM family= 24 OPM protein= 1p49 PDB=PDB3|1fsu :43 486 PDB3|1hdhB:3 501 PDB3|1p49A:25… …   Wikipedia

  • N-acetylglucosamine-6-sulfatase — glucosamine (N acetyl) 6 sulfatase (Sanfilippo disease IIID) Identifiers Symbol GNS Entrez 2799 HUGO …   Wikipedia

  • Chondro-4-sulfatase — Identifiers EC number CAS number 9045 75 4 …   Wikipedia

  • Chondro-6-sulfatase — Identifiers EC number CAS number 9045 76 5 …   Wikipedia

  • N-acetylgalactosamine-6-sulfatase — Identifiers EC number CAS number 9025 60 9 …   Wikipedia

  • GALNS — galactosamine 4 sulfatase …   Medical dictionary

  • GALNS — • galactosamine 4 sulfatase …   Dictionary of medical acronyms & abbreviations

  • Arylsulfatase B — Crystallographic structure of putative tetrameric arylsulfatase from Escherichia coli.[1] Identifiers …   Wikipedia

  • Arylsulfatase — is a type of sulfatase enzyme.[1] Types include: Arylsulfatase A (also known as cerebroside sulfatase ) Arylsulfatase B (also known as N Acetylgalactosamine 4 Sulfatase ) Steroid sulfatase (formerly known as Arylsulfatase C ) ARSC2 ARSD ARSE ARSF …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”