Disease-gene associations mined from literature

Literature associating CTDP1 and Charcot-Marie-Tooth disease type 4E

CTDP1 [ENSP00000484525]

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1; Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M-phase-promoting factor (MPF)/CDK1 inactivation; CTD family phosphatases

Synonyms:  CTDP1,  CTDP1p,  hCTDP1,  CTDP1-001,  CTDP1-002 ...

Linkouts:  STRING  Pharos  UniProt