Rotatin

RTTN
Identifiers
AliasesRTTN, MSSP, rotatin
External IDsOMIM: 610436; MGI: 2179288; HomoloGene: 65275; GeneCards: RTTN; OMA:RTTN - orthologs
Orthologs
SpeciesHumanMouse
Entrez

25914

246102

Ensembl

ENSG00000176225

ENSMUSG00000023066

UniProt

Q86VV8

Q8R4Y8

RefSeq (mRNA)

NM_173630
NM_001318520

NM_175542
NM_178063
NM_178064

RefSeq (protein)

NP_001305449
NP_775901

NP_780751

Location (UCSC)Chr 18: 70 – 70.21 MbChr 18: 88.99 – 89.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Rotatin is a protein that in humans is encoded by the RTTN gene.[5] It is involved in the maintenance of cellular cilia and the radial migration of 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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000176225 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023066 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "OMIM Entry - * 610436 - ROTATIN; RTTN". www.omim.org. Retrieved 2020-01-29.
  6. ^ a b Faisst AM, Alvarez-Bolado G, Treichel D, Gruss P (April 2002). "Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos". Mechanisms of Development. 113 (1): 15–28. doi:10.1016/S0925-4773(02)00003-5. hdl:11858/00-001M-0000-0012-F406-B. PMID 11900971. S2CID 12437570.
  7. ^ "OMIM Entry - # 614833 - MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP". omim.org. Retrieved 2020-01-29.
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