DISEASES

Disease-gene associations mined from literature

Literature associating SFMBT1 and hypophosphatemic nephrolithiasis/osteoporosis 1

SFMBT1 [ENSP00000378235]

Scm-like with four MBT domains protein 1; Histone-binding protein, which is part of various corepressor complexes. Mediates the recruitment of corepressor complexes to target genes, followed by chromatin compaction and repression of transcription. Plays a role during myogenesis: required for the maintenance of undifferentiated states of myogenic progenitor cells via interaction with MYOD1. Interaction with MYOD1 leads to the recruitment of associated corepressors and silencing of MYOD1 target genes. Part of the SLC complex in germ cells, where it may play a role during spermatogenesis; MBT domain containing

Synonyms:  SFMBT1,  SFMBT1p,  hSFMBT1,  A0A024R338,  C9IY64 ...

Linkouts:  STRING  Pharos  UniProt