Genomic coordinate 8:63,058,409
Here I present: “Vitamin-E Deficiency Ataxia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 維生素E缺乏性共濟。icd10=E56.0
INTRODUCTION.
Ataxia with vitamin E deficiency is a autosomal recessive neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia.
Familial isolated vitamin E deficiency is caused by mutations in the gene for alpha-tocopherol transfer protein. Symptoms manifest late childhood to early teens.
There is evidence that ataxia with vitamin E deficiency is caused by homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.3 and genomic coordinates 8:63,058,409-63,086,053. The screenshot of the TTPA 26,645 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TTPA in the 8q12.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:60,964,848 | CLVS1 | Clavesin 1 |
| 8:61,500,556 | ASPH | Aspartate beta-hydroxylase (junctin; junctate) |
| 8:62,248,854 | NKAIN3 | Na+/K+ transporting ATPase-interacting 3 |
| 8:63,015,079 | GGH | Gamma-glutamyl hydrolase |
| 8:63,058,409 | TTPA | Tocopherol, alpha, transfer protein |
| 8:63,168,553 | YTHDF3 | YTH N6-methyladenosine RNA-binding protein 3 |
| 8:64,580,365 | BHLHE22 | Basic helix-loop-helix family, member E22 |
| 8:64,586,575 | CYP7B1 | Cytochrome P450, subfamily VIIB polypeptide 1 |
| 8:65,100,001 | CMT2H | Charcot-Marie-Tooth disease, axonal, type 2H |
| 8:65,100,001 | DEL8q13 | Mesomelia-synostoses syndrome |
