DISEASES

Disease-gene associations mined from literature

Literature associating SPATA13 and optic atrophy 3

SPATA13 [ENSP00000398560]

Spermatogenesis-associated protein 13; Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism. Increases both RAC1 and CDC42 activity, but decreases the amount of active RHOA. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression. ECO:0000269|PubMed:17599059, ECO:0000269|PubMed:19151759,

Synonyms:  SPATA13,  SPATA13p,  hSPATA13,  A0A024RDM6,  E9PFR9 ...

Linkouts:  STRING  Pharos  UniProt