Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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SLC25A13 Lösungstransporter Familie 25, Lösungstransporter Familie 13 (citrin)

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

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Citrullinämie Typ 2
SLC25A13

Referenzen:

1.

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

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2.

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

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3.

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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4.

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

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5.

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

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6.

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

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7.

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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8.

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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9.

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

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10.

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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11.

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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12.

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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13.

NCBI article

NCBI 10165 external link
14.

OMIM.ORG article

Omim 603859 external link
15.

Orphanet article

Orphanet ID 118786 external link
Update: 14. August 2020
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