CTDP1

Chr 18

CTD phosphatase 1

Also known as: CCFDN, FCP1

NCBI Gene: 9150 ENSG00000060069 UniProt: Q9Y5B0

This gene encodes a phosphatase that dephosphorylates the C-terminal domain of RNA polymerase II to promote transcription initiation and also dephosphorylates key substrates required for mitotic exit. Mutations cause congenital cataracts, facial dysmorphism, and neuropathy (CCFDN), an autosomal recessive disorder with early-onset features affecting the eyes, craniofacial development, and peripheral nervous system. The gene is highly intolerant to loss-of-function variants (LOEUF 0.529), indicating strong selective pressure against haploinsufficiency.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital cataracts, facial dysmorphism, and neuropathy

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.53

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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