ARHGAP8

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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