Genomic coordinate 8:42,836,674
Here I present: “Torsion Dystonia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 扭轉性力不力。icd10=G24.1
INTRODUCTION.
Torsion dystonia-6 (DYT6) is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties.
Thanatos-associated [THAP] domain-containing apoptosis-associated protein-1 (THAP1) is a DNA-binding protein that has been associated with dystonia-6 (DYT6) a hereditary movement disorder involving sustained, involuntary muscle contractions.
THAP domain-containing protein-1 is a protein that in humans is encoded by the THAP1 gene. The synonym for THAP1 is DYT6 (dystonia-6).
There is evidence that torsion dystonia-6 (DYT6) is caused by a heterozygous mutation in the THAP1 gene on cytogenetic location 8p11.21 and genomic coordinate 8:42,836,674 . Nine (9) other genes besides THAP1 in the 8p11.21 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:42,391,880 | VDAC3 | Voltage-dependent anion channel 3 |
| 8:42,416,475 | SLC20A2,l | Solute carrier family 20, phosphate transporter, member 2 |
| 8:42,697,366 | CHRNB3 | Cholinergic receptor, nicotinic, beta polypeptide-3 |
| 8:42,752,620 | CHRNA6 | Cholinergic receptor, neuronal nicotinic, alpha polypeptide 6 |
| 8:42,836,674 | THAP1 | THAP domain-containing protein 1 |
| 8:42,849,637 | RNF170 | RING finger protein 170 |
| 8:42,896,978 | HOOK3 | Hook, Drosophila, homolog of, 3 |
| 8:43,056,323 | FNTA | Farnesyltransferase, CAAX box, alpha |
| 8:43,093,515 | POMK | Protein-O-mannose kinase |
| 8:43,140,464 | HGSNAT | Heparan-alpha-glucosaminide N-acetyltransferase |
