Gene: EXOSC3

Alternate names for this Gene: CGI-102|PCH1B|RRP40|Rrp40p|bA3J10.7|hRrp-40|p10

Gene Summary: This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.2

Description of this Gene: exosome component 3

Type of Gene: protein-coding

Gene: TRMT10B

Alternate names for this Gene: RG9MTD3|bA3J10.9

Gene Summary:

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.2

Description of this Gene: tRNA methyltransferase 10B

Type of Gene: protein-coding

rs672601332 in EXOSC3;TRMT10B gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 1B PMID 22544365 2012 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.