J. Reznick & K. Koyles, “United States National Library of Medicine”, 2017 was the topic of an earlier blog post.
Here I present: “C3b Inactivator Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. C3b滅活劑不足。(CFID).
INTRODUCTION.
Complement factor-I, also known as C3b inactivator, is a protein that in humans is encoded by the CFI gene. Complement factor-I is a protein of the complement system, first isolated in 1966. It regulates complement activation by cleaving cell-bound or fluid phase C3b and C4b. It is a soluble glycoprotein that circulates in human blood at an average concentration of 35 μg/mL.
There is evidence that C3b Inactivator Deficiency (CFID) is caused by heterozygous, homozygous, or compound heterozygous mutation in the gene encoding complement factor-I (CFI) on cytogenetic location 4q25 and genomic coordinates 4:109,730,982-109,801,999. The screenshot of the CFI gene 71,018 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides CFI in the 4q25 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 4:109,433,815 | SEC24B | SEC24-related gene family, member B |
| 4:109,560,246 | MCUB | Mitochondrial calcium uniporter, dominant-negative subunit beta |
| 4:109,664,388 | CASP6 | Caspase 6, apoptosis-related cysteine protease |
| 4:109,709,989 | PLA2G12A | Phospholipase A2, Group XIIA |
| 4:109,730,982 | CFI | Complement factor I |
| 4:109,815,510 | GAR1 | GAR1 ribonucleoprotein |
| 4:109,827,972 | RRH | Rhodopsin homolog, retinal pigment epithelium-derived (peropsin) |
| 4:109,848,107 | LRIT3 | Leucine-rich repeat, immunoglobulin and transmembrane protein 3 |
| 4:109,912,883 | EGF | Epidermal growth factor (urogastrone) |
| 4:110,045,846 | ELOVL6 | Elongation of very long chain fatty acids-like 6 |
