Here I present: “Protein-S deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 蛋白质-S缺乏。(THPH).
INTRODUCTION.
Protein–S deficiency is a disorder associated with increased risk of venous thrombosis.
Protein-S is a vitamin K-dependent physiological anticoagulant that acts as a nonenzymatic cofactor to activate protein-C in the degradation of factor Va and factor VIIIa.
Chromosome cytogenetic location 3q11.1 contains Protein-S deficiency of both dominant (THPH5) and recessive (THPH6) autosomal types at genomic coordinates 3:93,873,051-93,973,896 of the PROS1 gene. The screenshot of the PROS1 gene 106,846 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PROS1 in the 3q11.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:87,792,706 | HTR1F | 5-hydroxytryptamine receptor 1F |
| 3:88,051,950 | CGGBP1 | CGG triplet repeat binding protein 1 |
| 3:89,107,621 | EPHA3 | Ephrin receptor EphA3 (human embryo kinase 1) |
| 3:90,900,001 | ERVK-5 | Endogenous retrovirus group K, member 5 |
| 3:93,873,051 | PROS1 | Protein S, alpha |
| 3:93,980,155 | ARL13B | ADP ribosylation factor-like GTPase 13B |
| 3:94,000,001 | CAMPD1 | Camptodactyly 1 |
| 3:94,000,001 | LNC-CRYBG3 | Long noncoding RNA downstream of crystallin beta-gamma 3 |
| 3:94,057,922 | DHFRL1 | Dihydrofolate reductase-like 1 |
| 3:94,063,061 | NSUN3 | NOP2/SUN RNA methyltransferase family, member 3 |
