DISEASES

Disease-gene associations mined from literature

Literature associating CCDC101 and osteogenesis imperfecta type 10

CCDC101 [ENSP00000316114]

Coiled-coil domain-containing protein 101; Chromatin reader component of some histone acetyltransferase (HAT) SAGA-type complexes like the TFTC-HAT, ATAC or STAGA complexes. SGF29 specifically recognizes and binds methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3). In the SAGA-type complexes, SGF29 is required to recruit complexes to H3K4me. Involved in the response to endoplasmic reticulum (ER) stress by recruiting the SAGA complex to H3K4me, thereby promoting histone H3 acetylation and cell survival.

Synonyms:  CCDC101,  CCDC101p,  hCCDC101,  H3BPL5,  Q96ES7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM