CTDP1 Chromosome 18
CTD phosphatase subunit 1
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What This Gene Does
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]
Gene Info
Gene Group
CTD family phosphatases
Locus Type
gene with protein product
Location
18q23
Ensembl
ENSG00000060069
Associated Conditions (3)
CTDP1-related disorder
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Charcot-Marie-Tooth disease
Key Variants
RS1403055370
Conflicting classifications of pathogenicity
Health Risk
RS145870152
Conflicting classifications of pathogenicity
CTDP1-related disorder, CTDP1-related disorder
Health Risk
RS146831211
Conflicting classifications of pathogenicity
CTDP1-related disorder, CTDP1-related disorder
Health Risk
RS148053048
Conflicting classifications of pathogenicity
Health Risk
RS149090172
Conflicting classifications of pathogenicity
Congenital cataracts-facial dysmorphism-neuropathy syndrome, Congenital cataracts-facial dysmorphism-neuropathy syndrome
Health Risk
RS3833180
Conflicting classifications of pathogenicity
Health Risk
RS545124895
Conflicting classifications of pathogenicity
Health Risk
RS745911379
Conflicting classifications of pathogenicity
Health Risk
RS749371676
Conflicting classifications of pathogenicity
Congenital cataracts-facial dysmorphism-neuropathy syndrome, Congenital cataracts-facial dysmorphism-neuropathy syndrome
Health Risk
RS758608221
Conflicting classifications of pathogenicity
Congenital cataracts-facial dysmorphism-neuropathy syndrome, Congenital cataracts-facial dysmorphism-neuropathy syndrome
Health Risk
RS113994102
Pathogenic
Congenital cataracts-facial dysmorphism-neuropathy syndrome, Charcot-Marie-Tooth disease, Congenital cataracts-facial dysmorphism-neuropathy syndrome
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1403055370 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145870152 | Health Risk | Conflicting classifications of pathogenicity | CTDP1-related disorder, CTDP1-related disorder |
| RS146831211 | Health Risk | Conflicting classifications of pathogenicity | CTDP1-related disorder, CTDP1-related disorder |
| RS148053048 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149090172 | Health Risk | Conflicting classifications of pathogenicity | Congenital cataracts-facial dysmorphism-neuropathy syndrome, Congenital cataracts-facial dysmorphism-neuropathy syndrome |
| RS3833180 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS545124895 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745911379 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749371676 | Health Risk | Conflicting classifications of pathogenicity | Congenital cataracts-facial dysmorphism-neuropathy syndrome, Congenital cataracts-facial dysmorphism-neuropathy syndrome |
| RS758608221 | Health Risk | Conflicting classifications of pathogenicity | Congenital cataracts-facial dysmorphism-neuropathy syndrome, Congenital cataracts-facial dysmorphism-neuropathy syndrome |
| RS113994102 | Health Risk | Pathogenic | Congenital cataracts-facial dysmorphism-neuropathy syndrome, Charcot-Marie-Tooth disease, Congenital cataracts-facial dysmorphism-neuropathy syndrome |