Human Gene GALNS (uc010cid.3) Description and Page Index
Description: Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA. RefSeq Summary (NM_000512): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC056151.1, BC050684.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000268695.10/ ENSP00000268695.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr16:88,880,142-88,923,374 Size: 43,233 Total Exon Count: 15 Strand: - Coding Region Position: hg19 chr16:88,880,847-88,909,575 Size: 28,729 Coding Exon Count: 14
ID:GALNS_HUMAN DESCRIPTION: RecName: Full=N-acetylgalactosamine-6-sulfatase; EC=22.214.171.124; AltName: Full=Chondroitinsulfatase; Short=Chondroitinase; AltName: Full=Galactose-6-sulfate sulfatase; AltName: Full=N-acetylgalactosamine-6-sulfate sulfatase; Short=GalNAc6S sulfatase; Flags: Precursor; CATALYTIC ACTIVITY: 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. COFACTOR: Binds 1 calcium ion per subunit (By similarity). SUBUNIT: Oligomer of disulfide linked 40- and 15 kDa polypeptides. SUBCELLULAR LOCATION: Lysosome. PTM: The conversion to 3-oxoalanine (also known as C- formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity (By similarity). DISEASE: Defects in GALNS are the cause of mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]; also known as Morquio A syndrome. MPS4A is a form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. SIMILARITY: Belongs to the sulfatase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GALNS";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): GALNS CDC HuGE Published Literature: GALNS Positive Disease Associations: Hematocrit
, Hemoglobins Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P34059
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.