Gene:
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (DBSS)
Gene ID:
168266
Symbol:
Ctdp1_predicted
Species:
1182
Description:
Congenital cataracts facial dysmorphism neuropathy is caused by a single-nucleotide substitution in an antisense Alu element in intron 6 of CTDP1, resulting in a rare mechanism of aberrant splicing and an Alu insertion in the processed mRNA