Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Lebercilin

The LCA5 gene encodes Lebercilin a protein involved in centrosomal or ciliary functions. Mutations cause autosomal recessive Leber congenital amaurosis type 5.

Genetests:

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 05
LCA5

References:

1.

Coene KL et al. (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

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2.

Zernant J et al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

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3.

Dharmaraj S et al. (2000) A novel locus for Leber congenital amaurosis maps to chromosome 6q.

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4.

Mohamed MD et al. (2003) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

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5.

den Hollander AI et al. (2007) Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

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6.

van Wijk E et al. (2009) Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

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7.

NCBI article

NCBI 167691 external link
8.

OMIM.ORG article

Omim 611408 external link
9.

Orphanet article

Orphanet ID 140526 external link
10.

Wikipedia article

Wikipedia EN (LCA5) external link
Update: Aug. 14, 2020
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