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Cytoplasmic dynein 2 light intermediate chain 1

The DYNC2LI1 gene encodes a microtubular motor protein trat is involved in retrograde transport in primary cilia. Mutations cause autosomal recessive Short-rib thoracic dysplasia with or without polydactyly 15.

Genetests:

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

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 15
DYNC2LI1

References:

1.

Taylor SP et al. (2015) Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

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2.

Kessler K et al. (2015) DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.

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3.

Grissom PM et al. (2002) Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.

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4.

Mikami A et al. (2002) Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells.

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5.

Perrone CA et al. (2003) A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells.

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6.

Orphanet article

Orphanet ID 474406 external link
7.

NCBI article

NCBI 51626 external link
8.

OMIM.ORG article

Omim 617083 external link
Update: Aug. 14, 2020
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