Property Summary

NCBI Gene PubMed Count 14
Grant Count 10
R01 Count 10
Funding $1,258,197.07
PubMed Score 10.54
PubTator Score 12.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -2.352 0.000
ovarian cancer 1.200 0.001

Gene RIF (8)

PMID Text
26821380 Given the tolerability of glycine and folate in humans, this study points to a potential novel treatment for SLC25A38 congenital sideroblastic anemia
26335643 This study findings reveal a novel role for appoptosin in neurological disorders with tau neuropathology, linking caspase-3-mediated tau cleavage to synaptic dysfunction and behavioral/motor defects.
25512395 Letter/Case Report: novel frameshift mutation in SLC25A38 causing congenital sideroblastic anaemia.
24323989 Several missense mutations are found in SLC25A38 in a Chinese population with congenital sideroblastic anemia.
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
23115192 Our study identifies appoptosin as a crucial player in apoptosis and a novel pro-apoptotic protein involved in neuronal cell death.
21393332 Mutations in the SLC25A38 gene cause severe, non-syndromic, microcytic/hypochromic sideroblastic anemia in many populations.
19731322 Twelve CSA probands had biallelic mutations in SLC25A38

AA Sequence

MIQNSRPSLLQPQDVGDTVETLMLHPVIKAFLCGSISGTCSTLLFQPLDLLKTRLQTLQPSDHGSRRVGM      1 - 70
LAVLLKVVRTESLLGLWKGMSPSIVRCVPGVGIYFGTLYSLKQYFLRGHPPTALESVMLGVGSRSVAGVC     71 - 140
MSPITVIKTRYESGKYGYESIYAALRSIYHSEGHRGLFSGLTATLLRDAPFSGIYLMFYNQTKNIVPHDQ    141 - 210
VDATLIPITNFSCGIFAGILASLVTQPADVIKTHMQLYPLKFQWIGQAVTLIFKDYGLRGFFQGGIPRAL    211 - 280
RRTLMAAMAWTVYEEMMAKMGLKS                                                  281 - 304
//

Text Mined References (16)

PMID Year Title
26821380 2016 Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.
26335643 2015 Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis.
25512395 2015 Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38.
24323989 2013 Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship.
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
23115192 2012 Appoptosin is a novel pro-apoptotic protein and mediates cell death in neurodegeneration.
21393332 2011 Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
19731322 2010 Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
19412178 2009 Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
More...