Aliases for MMS19 Gene
External Ids for MMS19 Gene
Previous HGNC Symbols for MMS19 Gene
Previous GeneCards Identifiers for MMS19 Gene
GeneCards Summary for MMS19 Gene
MMS19 (MMS19 Homolog, Cytosolic Iron-Sulfur Assembly Component) is a Protein Coding gene. Diseases associated with MMS19 include Xeroderma Pigmentosum, Complementation Group D and Xeroderma Pigmentosum, Variant Type. Among its related pathways are Cytosolic iron-sulfur cluster assembly and Metabolism. Gene Ontology (GO) annotations related to this gene include binding and protein binding, bridging.
UniProtKB/Swiss-Prot Summary for MMS19 Gene
Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic integrity. In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision repair (NER), homologous recombination-mediated double-strand break DNA repair, DNA replication and RNA polymerase II (POL II) transcription (PubMed:22678362, PubMed:22678361, PubMed:29225034, PubMed:23585563). As part of the mitotic spindle-associated MMXD complex, plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD (PubMed:20797633). Indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into some component of the TFIIH-machinery (PubMed:11279242).