| Modification Notes |
RP1L1 (retinitis pigmentosa 1-like 1), also known as DCDC4B, is a 2480 amino acid retinal-specific protein that contains two doublecortin domains and a large repetitive C-terminal domain. Existing as multiple alternatively spliced isoforms, RP1L1 may play a role in the pathogenesis of retinitis pigmentosa, a group of genetic eye conditions that generally lead to night blindness and tunnel vision. The gene encoding RP1L1 maps to human chromosome 8, which consists of nearly 146 million base pairs, houses more than 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that map to chromosome 8. |
