Here I present: “Pulmonary Alveolar Proteinosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 肺泡蛋白病。(PAP).
INTRODUCTION.
Pulmonary alveolar proteinosis is a lung disorder characterized by an abnormal accumulation of surfactant-derived lipoprotein compounds within the alveoli of the lung. The accumulated substances interfere with the normal gas exchange and expansion of the lungs, ultimately leading to difficulty breathing and a predisposition to developing lung infections.
There is evidence that pulmonary surfactant metabolism dysfunction is caused by homozygous or compound heterozygous mutation in the gene encoding surfactant protein type-B (SFTPB) on cytogenetic location 2p11.3 and genomic coordinates 2:85,657,307-85,668,741. The screenshot of the SFTPB gene 11,435 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SFTPB in the 2p11.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:85,595,745 | RNF181 | Ring finger protein 181 |
| 2:85,598,547 | TMEM150A | Transmembrane protein 150A |
| 2:85,602,861 | USP39 | Ubiquitin-specific protease 39 |
| 2:85,605,254 | C2orf68 | Chromosome 2 open reading frame 68 |
| 2:85,657,307 | SFTPB | Pulmonary surfactant-associate protein B |
| 2:85,694,358 | GNLY | Granulysin |
| 2:85,753,991 | ATOH8 | Atonal bHLH transcription factor 8 |
| 2:85,837,120 | SIAT9 | Sialyltransferase 9 |
| 2:86,020,216 | POLR1A | Polymerase I, RNA, subunit A |
| 2:86,106,235 | PTCD3 | Pentatricopeptide repeat domain protein 3 |
