Property Summary

NCBI Gene PubMed Count 42
Grant Count 24
R01 Count 12
Funding $5,415,713
PubMed Score 189.31
PubTator Score 96.06

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Disease log2 FC p
Chronic Lymphocytic Leukemia 1.278 0.000
malignant mesothelioma -1.700 0.000
esophageal adenocarcinoma -1.700 0.028
psoriasis -1.400 0.000
cutaneous lupus erythematosus -2.200 0.000
osteosarcoma 2.197 0.000
ependymoma 1.200 0.000
medulloblastoma, large-cell -1.300 0.004
acute quadriplegic myopathy 1.073 0.000
Atopic dermatitis -1.100 0.020
adrenocortical carcinoma -1.535 0.000
tuberculosis 1.400 0.000
X-linked cerebral adrenoleukodystrophy -1.600 0.045
lung cancer 2.000 0.038
colon cancer -1.300 0.012
ductal carcinoma in situ -1.800 0.000
invasive ductal carcinoma -1.700 0.003
acute myeloid leukemia -1.100 0.009
ovarian cancer -2.800 0.000
Gaucher disease type 1 -1.800 0.040

Gene RIF (24)

PMID Text
25784589 Sjogren-Larsson Syndrome patients with ALDH3A2 mutations exhibit retinal disease in retinal cell layers
25047030 The gatekeeper helix domain is important for directing the substrate specificity of FALDH towards long-chain fatty aldehydes.
23034980 variation in the neurologic phenotype of Sjogren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or a biochemical defect, but by unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms.
22633490 the Sjogren-Larsson syndrome-causative gene ALDH3A2 is responsible for conversion of the sphingosine 1-phosphate degradation product hexadecenal to hexadecenoic acid
22397046 We studied three Turkish Sjogren-Larsson syndrome patients One patient was homozygous for a novel ALDH3A2 mutation in exon 5. The mutation involves the codon 228 (CGC) with the transversion G->A modifying the codon in CAC.
21872273 Five unrelated patients with typical Sjogren-Larsson syndrome all present mutations in the ALDH3A2 gene.
21684788 We describe 2 Sjogren-Larsson syndrome patients whose disease is caused by large contiguous gene deletions of the ALDH3A2 locus on 17p11.2.
21524986 SLS is caused by mutation in the ALDH3A2 gene, which encodes for FALDH, an enzyme that catalyzes the oxidation of medium- and long-chain aliphtic aldehydes.
20883264 The present results suggest that ALDH3A2 is a gene responsible for Sjogren-Larsson syndrome in Asian populations.
20877624 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDF      1 - 70
MLENLPEWVTAKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELS     71 - 140
ENTAKILAKLLPQYLDQDLYIVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGG    141 - 210
KSPCYIDKDCDLDIVCRRITWGKYMNCGQTCIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYE    211 - 280
RIINLRHFKRILSLLEGQKIAFGGETDEATRYIAPTVLTDVDPKTKVMQEEIFGPILPIVPVKNVDEAIN    281 - 350
FINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFGGVGSSGMGAYHGKHSFDTFS    351 - 420
HQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLVKAEYY         421 - 485
//

Text Mined References (44)

PMID Year Title
25784589 2015 Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.
25047030 2014 A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23034980 2013 Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.
22633490 2012 The Sjögren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway.
22397046 Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.
21872273 2012 Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
21684788 2011 Large contiguous gene deletions in Sjögren-Larsson syndrome.
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