Biology:Rotatin
 Generic protein structure example |
Rotatin is a protein that in humans is encoded by the RTTN gene.[1] It is involved in the maintenance of cellular cilia and the radial migration of neurons in the cerebral cortex.[1]
Function
Rotatin is involved in the maintenance of ciliary basal bodies. Mutations in rotatin result in fewer, abnormally short cilia, with bulbous tips and multiple basal bodies. It is also involved in the radial migration of neurons in the cerebral cortex and localises in similar areas to the migration-guiding Cajal–Retzius cells.[1] Its other roles include arrangement of the heart loops in heart development.[2]
Clinical significance
Mutations in both copies of rotatin cause a syndrome of microcephaly, short stature and polymicrogyria with or without seizures.[3]
History
The gene was first characterised in 2002 and was given its name for its role in the axial migration of heart loop development.[2]
References
- ↑ 1.0 1.1 1.2 "OMIM Entry - * 610436 - ROTATIN; RTTN". https://www.omim.org/entry/610436.
- ↑ 2.0 2.1 "Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos". Mechanisms of Development 113 (1): 15–28. April 2002. doi:10.1016/S0925-4773(02)00003-5. PMID 11900971.
- ↑ "OMIM Entry - # 614833 - MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP". https://omim.org/entry/614833.
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