WordNet

a fungus with a round yellow to orange fruiting body that is found on the surface of the ground or partially buried; has a distinctive sterile column extending into the spore-bearing tissue
an earthball fungus that is a dingy brownish yellow and a dark purplish interior; the peridium is covered with a pattern of small warts (同)Scleroderma aurantium
semiprecious yellow quartz resembling topaz

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/07/23 01:27:50」(JST)

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Citrin also known as solute carrier family 25, member 13 (citrin) or SLC25A13 is a protein which in humans is encoded by the SLC25A13 gene.^[1]

Citrin is associated with type II citrullinemia^[2]^[3]^[4] and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

The term Citrin when referring to Vitamin-P was the most active Bio-flavonoid in lemons, it was found to be Eriodictyol (but a more active form constituent was found there decades later).

References

^ Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T (June 1999). "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein". Nature Genetics 22 (2): 159–63. doi:10.1038/9667. PMID 10369257.
^ Saheki T, Kobayashi K (2002). "Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)". J. Hum. Genet. 47 (7): 333–41. doi:10.1007/s100380200046. PMID 12111366.
^ Saheki T, Kobayashi K, Iijima M, Nishi I, Yasuda T, Yamaguchi N, Gao HZ, Jalil MA, Begum L, Li MX (2002). "Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency". Metab Brain Dis 17 (4): 335–46. doi:10.1023/A:1021961919148. PMID 12602510.
^ Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y (2004). "Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle". Mol. Genet. Metab. 81. Suppl 1: S20–6. doi:10.1016/j.ymgme.2004.01.006. PMID 15050970.

External links

citrin at the US National Library of Medicine Medical Subject Headings (MeSH)
GeneReviews/NCBI/NIH/UW entry on Citrin Deficiency
SLC25A13 human gene location in the UCSC Genome Browser.
SLC25A13 human gene details in the UCSC Genome Browser.

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

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1. 新生児や乳児に生じる胆汁うっ滞の原因 causes of cholestasis in neonates and young infants
2. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
3. 尿素サイクル障害：臨床的特徴および診断 urea cycle disorders clinical features and diagnosis
4. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies

English Journal

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant.

Ye J, Qiu WJ, Han LS, Zhang HW, Gu XF1.
Chinese medical journal.Chin Med J (Engl).2015 Nov;128(21):2979-80. doi: 10.4103/0366-6999.168084.
PMID 26521805

Time-delay concealment and complexity enhancement of an external-cavity laser through optical injection.

Li N, Pan W, Locquet A, Citrin DS.
Optics letters.Opt Lett.2015 Oct 1;40(19):4416-9. doi: 10.1364/OL.40.004416.
The concealment of the time-delay signature (TDS) of chaotic external-cavity lasers is necessary to ensure the security of optical chaos-based cryptosystems. We show that this signature can be removed simply by optically injecting an external-cavity laser with a large linewidth-enhancement factor in
PMID 26421545

Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency.

Moriyama M1, Fujimoto Y2, Rikimaru S3, Ushikai M4, Kuroda E5, Kawabe K1, Takano K1, Asakawa A5, Inui A5, Eto K6, Kadowaki T7, Sinasac DS8, Okano Y9, Yazaki M10, Ikeda S10, Zhang C11, Song YZ12, Sakamoto O13, Kure S13, Mitsubuchi H14, Endo F15, Horiuchi M16, Nakamura Y1, Yamamura K17, Saheki T2.
Biochimica et biophysica acta.Biochim Biophys Acta.2015 Sep;1852(9):1787-95. doi: 10.1016/j.bbadis.2015.04.023. Epub 2015 May 5.
The mitochondrial aspartate-glutamate carrier isoform 2 (citrin) and mitochondrial glycerol-3-phosphate dehydrogenase (mGPD) double-knockout mouse has been a useful model of human citrin deficiency. One of the most prominent findings has been markedly increased hepatic glycerol 3-phosphate (G3P) fol
PMID 25952905

Japanese Journal

シトリン欠損症の病態について

早坂清
山形大学紀要. 医学 : 山形医学 = Bulletin of the Yamagata University. Medical science : Yamagata medical journal 38(1), 51-62, 2020-02-15
シトリンは、SLC25A13にコードされ、主に肝臓に発現するアスパラギン酸グルタミン酸輸送体であり、リンゴ酸－アスパラギン酸シャトルを構成する。このシャトルは、肝の解糖系に不可欠であり、シトリン欠損症の主な罹患臓器は肝臓である。シトリン欠損症は、SLC25A13変異が病因であり、日本人を含む東南アジア人に多い疾患である。３つの病型があり、新生児期には、肝内胆汁うっ滞症（NICCD）、適応・代償 …
NAID 120006796071

症例報告 MCTミルクにより腹部膨満と体重増加不良の改善を認めたシトリン欠損症の1例

中尾泰浩,有岡誠,近藤健夫,中村信嗣,小谷野耕佑,小西行彦,近藤園子,安田真之,岩瀬孝志,岡田仁,日下隆
香川県小児科医会会誌 = The journal of the Kagawa Pediatric Association (41), 25-29, 2020
NAID 40022329952

症例報告閉塞性黄疸を契機に診断に至ったシトルリン値正常なシトリン欠損症の姉妹例

武義基,志村優,加納加奈子,堤範音,西亦繁雄,河島尚志
東京医科大学雑誌 77(3), 233-239, 2019-07
NAID 40022009239

「シトリン」

solute carrier family 25, member 13 (citrin)
Identifiers
Symbol	SLC25A13
Alt. symbols	CTLN2
Entrez	10165
HUGO	10983
OMIM	603859
RefSeq	NM_014251
UniProt	Q9UJS0
Other data
Locus	Chr. 7 q21.3

　　[★]

英: citrin
関: シトルリン血症

[pmid10369257-1] Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T (June 1999). "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein". Nature Genetics 22 (2): 159–63. doi:10.1038/9667. PMID 10369257.

[pmid12111366-2] Saheki T, Kobayashi K (2002). "Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)". J. Hum. Genet. 47 (7): 333–41. doi:10.1007/s100380200046. PMID 12111366.

[pmid12602510-3] Saheki T, Kobayashi K, Iijima M, Nishi I, Yasuda T, Yamaguchi N, Gao HZ, Jalil MA, Begum L, Li MX (2002). "Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency". Metab Brain Dis 17 (4): 335–46. doi:10.1023/A:1021961919148. PMID 12602510.

[pmid15050970-4] Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y (2004). "Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle". Mol. Genet. Metab. 81. Suppl 1: S20–6. doi:10.1016/j.ymgme.2004.01.006. PMID 15050970.

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案内

citrin