DISEASES

Disease-gene associations mined from literature

Literature associating SCO1 and Leigh disease

SCO1 [ENSP00000255390]

Protein SCO1 homolog, mitochondrial; Copper metallochaperone essential for the maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Not required for the synthesis of MT-CO2/COX2 but plays a crucial role in stabilizing MT- CO2/COX2 during its subsequent maturation. Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15659396, PubMed:16735468, PubMed:17189203, PubMed:19336478, PubMed:15229189). Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity). ECO:0000269|PubMed:15229189, ECO:0000269|PubMed:15659396, ECO:0000269|PubMed:16735468, ECO:0000269|PubMed:17189203,; Belongs to the SCO1/2 family.

Synonyms:  SCO1,  SCO1p,  hSCO1,  J3QL56,  J3QR42 ...

Linkouts:  STRING  Pharos  UniProt  OMIM