Worm gene name:  T13C2.6
Worm sequence name:  T13C2.6
Related human gene:  VLDL receptor (very low density lipoprotein receptor)
Associated human disease:  Unertan syndrome
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Left primer sequence:  cctccaaattttgcgtgttt
Right primer sequence:  aaaaccggcacactcatttc
Size of PCR product:  467
Brief description:  Unertan syndrome has been discovered in a family in Turkey. Members of this family walk on all four limbs. The mutation maps to the VLDL receptor. It results in a receptor with no extracellular portion. It causes edema in the brain, which results in brain damage to the region of the brain which directs locomotion. The closest C. elegans ortholog- T13C2.6- has been previously shown to have an embryonic lethal phenotype by RNAi.
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Brıef description, l.4: "It causes edema ın the braın" should be replaced by: "It causes disruption of the neuroblast migration within the developing brain and cerebellum in utero."
Posted by Uner Tan on 2009-01-14 17:40:47