Genomic coordinate 8:54,559,185
Here I present: “Retinitis Pigmentosa”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (RP1) 色素性視網。icd10=H35.52
INTRODUCTION.
Oxygen-regulated protein-1 is a protein that in humans is encoded by the retinitis pigmentosa-1 (RP1) gene.
The RP1 gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains that bind to microtubules and regulate microtubule polymerization. The encoded protein is a protein associated with the photoreceptor cell microtubules in the retina and is necessary for the correct stacking of outer segment disc. This protein and another retinal-specific protein, RP1L1, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptor cells.
Mutations in the RP1 gene cause autosomal dominant & recessive retinitis pigmentosa type-1. The RP1 is encoded on cytogenetic location 8q11.23-q12.1 and genomic coordinates 8:54,559,185.
Nine (9) other genes besides RP1 in the 8q11.23-q12.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:53,966,556 | TCEA1 | Transcription elongation factor A, SII, 1 |
| 8:54,042,987 | LYPLA1 | Lysophospholipase I |
| 8:54,135,241 | MRPL15 | Mitochondrial ribosomal protein L15 |
| 8:54,457,935 | SOX17 | SRY-box 17 |
| 8:54,559,185 | RP1 | RP1 axonemal microtubule-associated protein |
| 8:54,600,001 | ANIB10 | Aneurysm, intracranial berry, 10 |
| 8:54,600,001 | IS3 | Scoliosis, isolated, susceptibility to, 3 |
| 8:54,600,001 | MTBS2 | Mycobacterium tuberculosis, susceptibility to, 2 |
| 8:55,773,446 | TGS1 | Trimethylguanosine synthase 1 |
| 8:55,879,835 | LYN | LYN protooncogene, SRC family tyrosine kinase |
