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Gene : CTDP1 Homo sapiens

Name  ? CTD phosphatase subunit 1 Cytological Location  18q23
Brief Description  CTD phosphatase subunit 1
description  This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
  • synonyms:
  • NM_004715,
  • CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,
  • CTDP1,
  • CCFDN,
  • FCP1,
  • OTTHUMG00000132920,
  • HGNC:2498,
  • FCP1,
  • AF081287,
  • uc002lnh.3
  • identifiers:
  • 9150,
  • ENSG00000060069,
  • CTDP1

Genome feature

Region: gene ? Length: 74710  
Location: 18:79679801-79754510 Cyto location: 18q23


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results