Zytoplasmatisches Dynein 2 leichte Intermediärkette 1
Das DYNC2LI1-Gen kodiert ein mikrotubuläres Motorprotein was für den retrograden transport in primären Zilien verantwortlich ist. Mutationen führen zu autosomal rezessivem SRTD-Syndrom 15.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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
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7. |
NCBI article
NCBI 51626
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8. |
OMIM.ORG article
Omim 617083
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Update: 14. August 2020