CDC40 Chromosome 6
Cell division cycle 40
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What This Gene Does
Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex"
Locus Type
gene with protein product
Location
6q21
Ensembl
ENSG00000168438
Associated Conditions (3)
Pontocerebellar hypoplasia
type 15
Congenital pontocerebellar hypoplasia
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779945821 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia, type 15, Congenital pontocerebellar hypoplasia |