XRN2 Summary

This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

XRN2 Details

Gene Symbol : XRN2

Gene Name : 5'-3' exoribonuclease 2

Chromosome : CHR 20: 213,032,83-213,898,24

Locus : 20p11.22

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RIN2 Summary

The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

RIN2 Details

Gene Symbol : RIN2

Gene Name : Ras and Rab interactor 2

Chromosome : CHR 20: 197,576,09-200,024,58

Locus : 20p11.23

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