PRR5-ARHGAP8
Description
The PRR5-ARHGAP8 (PRR5-ARHGAP8 readthrough) is a protein-coding gene located on chromosome 22.
The PRR5-ARHGAP8 gene is a fusion gene that is created by a translocation between chromosomes 1 and 17. This fusion gene encodes a protein that has both PRR5 and ARHGAP8 domains. The PRR5 domain is thought to be involved in regulating cell signaling pathways, while the ARHGAP8 domain is thought to be involved in regulating the actin cytoskeleton. The PRR5-ARHGAP8 fusion protein has been shown to be overexpressed in some types of cancer, suggesting that it may play a role in cancer development.
The PRR5-ARHGAP8 gene is a fusion gene that is created by a translocation between chromosomes 1 and 17. This fusion gene encodes a protein that has both PRR5 and ARHGAP8 domains. The PRR5 domain is thought to be involved in regulating cell signaling pathways, while the ARHGAP8 domain is thought to be involved in regulating the actin cytoskeleton. The PRR5-ARHGAP8 fusion protein has been shown to be overexpressed in some types of cancer, suggesting that it may play a role in cancer development.
PRR5-ARHGAP8 is also known as -.
Associated Diseases
- early-onset non-syndromic cataract
- isolated ectopia lentis
- cataract
- hereditary hyperferritinemia with congenital cataracts
- cataract 13 with adult I phenotype
- cataract 38
- cochleosaccular degeneration-cataract syndrome
- schizophrenia 15
- hydrocephaly-cerebellar agenesis syndrome
- granular corneal dystrophy type I
- spinocerebellar ataxia, autosomal recessive 24
- cataract 12 multiple types
- cataract 5 multiple types