Property Summary

NCBI Gene PubMed Count 58
Grant Count 6
R01 Count 1
Funding $240,140.32
PubMed Score 261.49
PubTator Score 363.55

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
psoriasis -1.100 0.000
osteosarcoma -1.673 0.001
posterior fossa group B ependymoma 2.000 0.000
tuberculosis 1.400 0.000

Synonym

Accession P34059 Q86VK3
Symbols GAS
MPS4A
GalN6S
GALNAC6S

Gene

PANTHER Protein Class (1)

PDB

4FDI   4FDJ  

Gene RIF (26)

PMID Text
25545067 A new GALNS intronic lesion was characterized: c.245-11C>G causing m-RNA defects, although identified outside the GT/AG splice pair.
25501214 The goals were to analyze and characterize the secondary structure, regions of intrinsic disorder and physicochemical characteristics of three classes of mutations described in the enzyme N-acetylgalactosamine-6-sulfatase.
25137622 A review of mutations in the GALNS gene associated with Morquio A syndrome.
24726177 Molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function.
24411403 2 unrelated Turkish patients had 2 homozygous known mutations: p.L390X in exon 11 and p.W141R in exon 4. The p L390X mutation was associated with 4 novel polymorphisms in intron 2, intron 5 and intron 6 and a known polymorphism in exon 7.
24035930 GALNS gene 5 new mutations: p.N177S, p.G290R, p.F306S, p.W520X, p.W403_T404delinsCS in the mucopolysaccharidosis IVA patients in South China
23876334 Here we present 53 mutations including 19 novel mutations in GALNS gene in a cohort of 55 patients
23401410 Novel mutations in the GALNS gene associated with mucopolysaccharidosis IVA in Korean patients.
23313879 missense mutation in GALNS is associated with a severe form of mucopolysaccharidosis type IVA.
22940367 Comparison of the structure of GALNS to paralogous sulfatases shows a wide variety of active-site geometries in the family but strict conservation of the catalytic machinery
More...

AA Sequence

MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLDRMAAEGLLFP      1 - 70
NFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGK     71 - 140
WHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYL    141 - 210
QEALDFIKRQARHHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADN    211 - 280
TFVFFTSDNGAALISAPEQGGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSL    281 - 350
ALAGLTPPSDRAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCP    351 - 420
GQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCN    421 - 490
WAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH                                          491 - 522
//

Text Mined References (61)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25545067 2015 Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
25501214 2014 In silico analysis of mutations occurring in the protein N-acetylgalactosamine-6-sulfatase (GALNS) and causing mucopolysaccharidosis IVA.
25137622 2014 Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
24411403 2014 Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.
24035930 2013 Molecular genetic assay of mucopolysaccharidosis IVA in South China.
23876334 Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23401410 2013 Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
More...