Rin2 gene

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 22.09.2022

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Synonym(s)

Ras and Rab Interactor 2; RAS Association (RalGDS/AF-6) Domain Containing Protein JC2; RASSF4

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EtiologyThis section has been translated automatically.

The gene RIN2 (Ras And Rab Interactor 2), located on chromosome 20p11.23, is involved in endosome transport (Aslanger AD et al. 2014). RIN2 encodes for the RAS Interaction/Interference Protein 2

RIN2 (Ras And Rab Interactor 2) is a protein-coding gene. The protein encoded by the RIN2 gene, a GTPase, binds the GTP-bound form of the RAB5 protein and acts as a guanine nucleotide exchange factor for RAB5. The encoded protein is mainly tetramerically organized in the cytoplasm and otherwise does not bind other members of the RAB family (Saito K et al. 2002).

Clinical pictureThis section has been translated automatically.

Mutations in this gene cause macrocephaly, alopecia cutis laxa and scoliosis (MACS) syndrome, a form of hereditary cutis laxa group(RIN2 syndrome). Alternative splicing results in multiple transcript variants (Basel-Vanagaite L et al. 2009).

LiteratureThis section has been translated automatically.

  1. Basel-Vanagaite L et al (2009) RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.Am J Hum Genet 85: 254-263
  2. Kameli R et al (2020) Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. Eur J Med Genet 63:103629.
  3. Saito K et al (2002) A novel binding protein composed of homophilic tetramer exhibits unique properties for the small GTPase Rab5. The Journal of biological chemistry 277:3412-3418

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Last updated on: 22.09.2022