Rotatin
| RTTN | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 18: 70 – 70.21 Mb | Chr 18: 88.99 – 89.15 Mb | ||||
| PubMed search | [3] | [4] | ||||
| View/Edit Human | View/Edit Mouse |
Rotatin is a protein that in humans is encoded by the RTTN gene.neurons in the cerebral cortex.[5]
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.[5] Its other roles include arrangement of the heart loops in heart development.[6]
Clinical significance
Mutations in both copies of rotatin cause a syndrome of microcephaly, short stature and polymicrogyria with or without seizures.[7]
History
The gene was first characterised in 2002 and was given its name for its role in the axial migration of heart loop development.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000176225 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023066 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "OMIM Entry - * 610436 - ROTATIN; RTTN". www.omim.org. Retrieved 2020-01-29.
- ^ S2CID 12437570.
- ^ "OMIM Entry - # 614833 - MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP". omim.org. Retrieved 2020-01-29.
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