MMS19

Description

The MMS19 (MMS19 homolog, cytosolic iron-sulfur assembly component) is a protein-coding gene located on chromosome 10.

MMS19 nucleotide excision repair protein homolog is a protein that in humans is encoded by the MMS19 gene.

The MMS19 protein is a key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur clusters 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. As part of the mitotic spindle-associated MMXD complex, MMS19 plays a role in chromosome segregation, probably by facilitating iron-sulfur (Fe-S) cluster assembly into ERCC2/XPD. Together with CIAO2, MMS19 facilitates the transfer of Fe-S clusters to the motor protein KIF4A, which ensures proper localization of KIF4A to mitotic machinery components to promote the progression of mitosis. MMS19 indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into some component of the TFIIH-machinery.

MMS19 is also known as CIAO4, MET18, MMS19L, hMMS19.

Associated Diseases

WES Whole Exome Sequencing