Property Summary

NCBI Gene PubMed Count 105
Grant Count 248
R01 Count 97
Funding $66,848,853.11
PubMed Score 208.86
PubTator Score 583.14

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.528 0.000

Gene

PANTHER Protein Class (2)

PDB

1R3A   5IN3  

 OMIM Term (1)

Gene RIF (64)

PMID Text
25920691 A novel noncoding homozygous GALT variant associated with asymptomatic galactosemia has been described in an infant of consanguineous heterozygous parents.
25592817 Novel missense mutations identified in Italian galactosemic patients.
25268296 GALT activity in red blood cells of patients with galactosaemia
25124065 In Korean population, novel GALT mutations were identified in the galactosemia patients different from those of other populations.
25052314 Mutation activates a cryptic donor splice site, inducing an aberrant splicing of the GALT pre-mRNA, which in turn leads to a frameshift with inclusion of a premature stop codon.
24045215 suggests that GALT mutations are ethnic-specific and that galactosemia is a heterogeneous disorder at the molecular level
23924834 In this report, we present GALT gene mutations in 56 cases of galactosemia from Turkey identified using DNA microarray resequencing.
23690308 Data suggest that in classic galactosemia residual GALT activity (predicted from activity of recombinant GALT matching patient's mutation) correlates with reduced ovarian reserve (as indicted by biological marker, circulating anti-Mullerian hormone).
23583749 HGALT requires a level of flexibility to function optimally and that altered folding is the underlying reason of impairment in all the variants tested here.
23022339 The novel GALT gene mutations included 6 missense mutations viz. Y89H, Q103R, P166A, S181F, K285R, R333L; one nonsense mutation, S307X and 3 silent mutations--Q103Q, K210K and H319H.
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AA Sequence

MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDP      1 - 70
LNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLP     71 - 140
LMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYK    141 - 210
SQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMK    211 - 280
KLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLT    281 - 350
PEQAAERLRALPEVHYHLGQKDRETATIA                                             351 - 379
//

Text Mined References (106)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25920691 2015 Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
25614870 2014 Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
25592817 2015 Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
25416956 2014 A proteome-scale map of the human interactome network.
25268296 2014 Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
25124065 2014 Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.
25052314 2015 Functional correction by antisense therapy of a splicing mutation in the GALT gene.
24045215 2013 Mutational analysis of the GALT gene in Filipino patients.
23924834 2013 Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
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