Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 15
DYNC2LI1

References:

1.

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

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2.

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

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3.

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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4.

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

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5.

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

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Update: Sept. 26, 2018