Property Summary

NCBI Gene PubMed Count 154
Grant Count 168
R01 Count 84
Funding $40,901,245.31
PubMed Score 936.69
PubTator Score 1340.17

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
glioblastoma 1.300 0.001
intraductal papillary-mucinous neoplasm ... 1.100 0.008
colon cancer 1.100 0.003
fibroadenoma 1.100 0.008
group 3 medulloblastoma 1.300 0.000
subependymal giant cell astrocytoma 1.154 0.040
ovarian cancer -1.800 0.000

Synonym

Accession P06280 Q6LER7
Symbols GALA

Gene

GLA

PDB

1R46   1R47   3GXN   3GXP   3GXT   3HG2   3HG3   3HG4   3HG5   3LX9   3LXA   3LXB   3LXC   3S5Y   3S5Z   3TV8   4NXS  

Gene RIF (96)

PMID Text
26691501 Study describes 5 novel mutations found in the GLA gene of patients with clinical diagnosis of Fabry disease.
26564084 Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for alpha-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy.
26456105 results directly implicated the GLA mutation p.E66Q as the genetic etiology of the Chinese renal variant FD pedigree.
26415523 We conclude that a mild GLA variant is typically characterized by high residual enzyme activity and normal biomarker levels. We found evidence that these variants can still be classified as a distinctive, but milder, sub-type of FD.
26334996 Thus, inheritance of the CIH caused an mRNA deregulation altering the GLA expression pattern, producing a tissue glycolipid storage.
26297554 The present study confirms the heterogeneity of mutations in Fabry disease and the importance of molecular analysis for genetic counseling, female heterozygotes detection as well as therapeutic decisions.
26070511 GLA gene variations correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma
25468652 data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with Fabry disease clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease
25423912 In Fabry disease patients, the alpha-galactosidase A-10T allele appears to be causal for neurological manifestations.
25382311 These data confirmed that the specific approach can effectively contribute to the identification of pathological mutations in GLA.
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AA Sequence

MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFM      1 - 70
EMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNK     71 - 140
TCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWP    141 - 210
FQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQ    211 - 280
VTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWA    281 - 350
VAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENT    351 - 420
MQMSLKDLL                                                                 421 - 429
//

Text Mined References (170)

PMID Year Title
27211852 2016 A novel mutation of ?-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
26691501 2016 Molecular and clinical studies in five index cases with novel mutations in the GLA gene.
26564084 2015 Fabry disease.
26456105 2016 GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.
26415523 2016 Functional and Clinical Consequences of Novel ?-Galactosidase A Mutations in Fabry Disease.
26334996 2015 Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the ?-galactosidase A (GLA) gene.
26297554 2015 Identification of mutations in Colombian patients affected with Fabry disease.
26070511 2015 Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
More...