ARHGAP8
Description
The ARHGAP8 (Rho GTPase activating protein 8) is a protein-coding gene located on chromosome 22.
ARHGAP8 gene encodes Rho GTPase-activating protein 8, a member of the RHOGAP family. GAP proteins regulate cell processes involved in cytoskeletal changes by altering the GTP:GDP ratio in the cell, which determines the active (GTP-bound) or inactive (GDP-bound) state of the proteins. ARHGAP8 was initially described as containing proline-rich domains characteristic of PRR5 proteins, due to read-through transcripts from the upstream PRR5 gene. Multiple isoforms of ARHGAP8 are produced by alternative splicing.
ARHGAP8 is also known as BPGAP1, PP610.
Associated Diseases
- early-onset non-syndromic cataract
- isolated ectopia lentis
- cancer
- 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
