Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Tubby-related Protein 1

Das TULP1-Gen kodiert ein Protein, welches an der Funktion der Photorezeptoren beteiligt ist. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 15.

Gentests:

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

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 15
TULP1

Referenzen:

1.

Kondo H et al. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

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2.

Hanein S et al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

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3.

den Hollander AI et al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

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4.

Mataftsi A et al. (2007) Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

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5.

Knowles JA et al. (1994) Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

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6.

North MA et al. (1997) Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases.

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7.

Hagstrom SA et al. (1998) Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.

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8.

Banerjee P et al. (1998) TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

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9.

Lewis CA et al. (1999) Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.

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10.

Ikeda S et al. (2000) Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene.

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11.

Paloma E et al. (2000) Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.

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12.

den Hollander AI et al. (2007) Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.

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13.

Orphanet article

Orphanet ID 120341 [^]
14.

NCBI article

NCBI 7287 [^]
15.

OMIM.ORG article

Omim 602280 [^]
Update: 9. Mai 2019