SFR1
Description
The SFR1 (SWI5 dependent homologous recombination repair protein 1) is a protein-coding gene located on chromosome 10.
SFR1 is part of the SWI5-SFR1 complex, which is essential for repairing double-strand breaks in DNA using homologous recombination. SFR1 also functions as a transcriptional regulator for the estrogen receptor 1 (ESR1).
SFR1 is also known as C10orf78, MEI5, MEIR5, bA373N18.1.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
- breast cancer
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- isolated spina bifida
- cancer
- type 1 diabetes mellitus
- asthma
