DISEASES

Disease-gene associations mined from literature

Literature associating CIAO1 and xeroderma pigmentosum group D

CIAO1 [ENSP00000418287]

Probable cytosolic iron-sulfur protein assembly protein CIAO1; Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins . As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilizes IREB2 . Seems to specifically modulate the transactivation activity of WT1 . As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation . ECO:0000269|PubMed:20797633, ECO:0000269|PubMed:23891004,

Synonyms:  CIAO1,  CIAO1p,  hCIAO1,  O76071,  O76071p ...

Linkouts:  STRING  Pharos  UniProt  OMIM