Property Summary

NCBI Gene PubMed Count 58
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  

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

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
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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...