Disease-gene associations mined from literature

Literature associating CTDSPL and autosomal recessive chronic granulomatous disease cytochrome b-positive type II

CTDSPL [ENSP00000273179]

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like; Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells (By similarity). Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation; CTD family phosphatases

Synonyms:  CTDSPL,  F8WED2,  H7C2S4,  O15194,  C3orf8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM