Galactosamine-6 sulfatase

N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.[5][6]

GALNS
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGALNS, galactosamine (N-acetyl)-6-sulfatase, GALNAC6S, GAS, GalN6S, MPS4A
External IDsOMIM: 612222 MGI: 1355303 HomoloGene: 55468 GeneCards: GALNS
Orthologs
SpeciesHumanMouse
Entrez

2588

50917

Ensembl

ENSG00000141012

ENSMUSG00000015027

UniProt

P34059

Q571E4

RefSeq (mRNA)

NM_000512
NM_001323543
NM_001323544

NM_001193645
NM_016722

RefSeq (protein)

NP_000503
NP_001310472
NP_001310473

NP_001180574
NP_057931

Location (UCSC)Chr 16: 88.81 – 88.86 MbChr 8: 123.3 – 123.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000141012 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000015027 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. "Entrez Gene: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)".

Further reading

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

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.