Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Tubby-related protein 1

The TULP1 gene encodes a photoreceptor specific protein. Mutations cause autosomal recessive Leber congenital amaurosis type 15.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 15



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

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

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

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

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

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Orphanet article

Orphanet ID 120341 external link

NCBI article

NCBI 7287 external link

OMIM.ORG article

Omim 602280 external link

Wikipedia article

Wikipedia EN (TULP1) external link
Update: Aug. 14, 2020
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