Gene: CASKIN2

Alternate names for this Gene: ANKS5B

Gene Summary: This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: CASK interacting protein 2

Type of Gene: protein-coding

Gene: TSEN54

Alternate names for this Gene: PCH2A|PCH4|PCH5|SEN54L|sen54

Gene Summary: This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: tRNA splicing endonuclease subunit 54

Type of Gene: protein-coding