Gene Symbol | CTDP1 |
Entrez Gene ID | 9150 |
Full Name | CTD phosphatase subunit 1 |
Synonyms | CCFDN,FCP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3) |