CTDP1 CTD phosphatase subunit 1
Gene ID: 9150, updated on 14-Nov-2024Gene type: protein coding
Also known as: FCP1; CCFDN
- See all available tests in GTR for this gene
- Go to complete Gene record for CTDP1
- Go to Variation Viewer for CTDP1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital cataracts-facial dysmorphism-neuropathy syndrome MedGen: C1858726OMIM: 604168GeneReviews: CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy | See labs |
| Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms. GeneReviews: Not available |
Genomic context
- Location:
- 18q23
- Sequence:
- Chromosome: 18; NC_000018.10 (79676768..79756625)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CTDP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CTDP1 - Leiden Muscular Dystrophy pages
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.