Property Summary

NCBI Gene PubMed Count 62
Grant Count 24
R01 Count 5
Funding $2,131,576.18
PubMed Score 190.87
PubTator Score 207.59

Knowledge Summary

Patent

No data available

TINX Plot

Expression

Gene RIF (52)

PMID Text
25410934 Structure of the calcium bound and calcium free N- and C-terminal domains is described, elucidating the mechanism of calcium regulation.
25365849 Mutation screening of the SLC25A13 gene revealed the compound heterozygous mutations c.1081C>T (p.R361*) and c.74C>A (p. A25E) which confirmed the diagnosis of NICCD. The nonsense mutation c.1081C>T (p.R361*) is novel.
25110155 This study aims to screen for five prevalent SLC25A13 mutations, to calculate the mutation carrier rate in Guangdong.
24927999 Point mutation of ASS1, ASL and SLC25A13 is associated with citrullinemia.
24508627 we reviewed the English literature on mutations in the SLC25A13 gene, and its genotype-phenotype correlations to provide valuable insights into the molecular genetic background of citrullinemia--{REVIEW}
24282362 Report frequency SLC25A13 mutations in the Thai population and estimate prevalence of citrin deficiency.
24069319 Identification of novel SLC25A13 gene mutations in East Asian patients with citrin deficiency.
23901231 The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis.
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
23067347 The objectives were to study the prevalence of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Thai infants with idiopathic cholestasis, mutation spectrum of SLC25A13 in Thai NICCD, and comparison of clinical manifestations and blood chemistry between NICCD and non-NICCD infants.
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AA Sequence

MAAAKVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRYLNIFGESQPNPKTVELLSGVVDQTKD      1 - 70
GLISFQEFVAFESVLCAPDALFMVAFQLFDKAGKGEVTFEDVKQVFGQTTIHQHIPFNWDSEFVQLHFGK     71 - 140
ERKRHLTYAEFTQFLLEIQLEHAKQAFVQRDNARTGRVTAIDFRDIMVTIRPHVLTPFVEECLVAAAGGT    141 - 210
TSHQVSFSYFNGFNSLLNNMELIRKIYSTLAGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQLADLYE    211 - 280
PRGRMTLADIERIAPLEEGTLPFNLAEAQRQKASGDSARPVLLQVAESAYRFGLGSVAGAVGATAVYPID    281 - 350
LVKTRMQNQRSTGSFVGELMYKNSFDCFKKVLRYEGFFGLYRGLLPQLLGVAPEKAIKLTVNDFVRDKFM    351 - 420
HKDGSVPLAAEILAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALSVVRDLGFFGIYKGAKACF    421 - 490
LRDIPFSAIYFPCYAHVKASFANEDGQVSPGSLLLAGAIAGMPAASLVTPADVIKTRLQVAARAGQTTYS    491 - 560
GVIDCFRKILREEGPKALWKGAGARVFRSSPQFGVTLLTYELLQRWFYIDFGGVKPMGSEPVPKSRINLP    561 - 630
APNPDHVGGYKLAVATFAGIENKFGLYLPLFKPSVSTSKAIGGGP                             631 - 675
//

Publication (68)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25410934 2014 Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers.
25365849 2014 First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
25110155 2014 Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.
24927999 2014 [Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients].
24508627 2014 Molecular genetics of citrullinemia types I and II.
24282362 2013 Screening of SLC25A13 mutation in the Thai population.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
24069319 2013 SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
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