Gene: CTDP1

Alternate names for this Gene: CCFDN|FCP1

Gene 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q23

Description of this Gene: CTD phosphatase subunit 1

Type of Gene: protein-coding

rs149325996 in CTDP1 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs113994102 in CTDP1 gene and Charcot-Marie-Tooth Disease PMID 16194727 2005 Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

rs12458462 in CTDP1 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12458462 in CTDP1 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs74641711 in CTDP1 gene and Opioid-Related Disorders PMID 29478698 2018 Genome-wide Association Study Identifies a Regulatory Variant of RGMA Associated With Opioid Dependence in European Americans.