Rin2 gene
Synonym(s)
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 (macrocephaly alopecia cutis laxa and scoliosis), a form of the hereditary cutis laxa group(RIN2 syndrome). Alternative splicing leads to several transcript variants (Basel-Vanagaite L et al. 2009).
Furthermore, mutations in the BS7 and RIN2 genes cause the coincident occurrence of Bardet-Biedl syndrome and RIN2 synd rome respectively (Shaukat M et al. 2020).
LiteratureThis section has been translated automatically.
- 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
- Kameli R et al. (2020) Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. Eur J Med Genet 63:103629.
- Kawasaki T et al. (2005) A duplicated pair of Arabidopsis RING-finger E3 ligases contribute to the RPM1- and RPS2-mediated hypersensitive response. Plant J 44:258-270.
- Shaukat M et al. (2020) RIN2 and BBS7 variants as cause of a coincidental syndrome. Eur J Med Genet 63:103755.
- 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