Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SLC25A13 Lösungstransporter Familie 25, Lösungstransporter Familie 13 (citrin)

Das Gen SLC25A13 kodiert einen mitochondralen Aminosäuretransporter. Mutationen führen zur autosomal rezessiven Citrullinämie vom Typ 2.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Citrullinämie Typ 2
SLC25A13

Referenzen:

1.

Kobayashi K et al. (1999) The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

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2.

Yasuda T et al. (2000) Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.

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3.

Ohura T et al. (2001) Neonatal presentation of adult-onset type II citrullinemia.

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4.

Tazawa Y et al. (2001) Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.

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5.

Tomomasa T et al. (2001) Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.

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6.

Saheki T et al. (2002) Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).

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7.

Tamamori A et al. (2002) Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.

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8.

Saheki T et al. (2002) Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.

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9.

Sinasac DS et al. (2004) Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.

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10.

Saheki T et al. (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.

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11.

Roesch K et al. (2004) The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.

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12.

Fiermonte G et al. (2008) An adult with type 2 citrullinemia presenting in Europe.

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