Here I present: “Mucolipidosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 粘液脂變。
INTRODUCTION.
Mucolipidosis is a group of inherited metabolic disorders that affect the body’s ability to carry out the normal turnover of various materials within cells. When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses. Biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.
There is evidence that both mucolipidosis-α/β types II & III are caused by homozygous or compound heterozygous mutation in the N-acetylglucosamine-1-phosphotransferase (GNPTAB) gene on 12q23.2 and genomic coordinate 12:101,745,499-101,830,959. The screenshot the GNPTAB gene 85,461 bp (base pairs) DNA sequence length is shown BELOW. Nine (9) other genes besides GNPTAB in the 12q23.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 12:101,475,336 | SPIC | SPIC transcription factor |
| 12:101,594,971 | MYBPC1 | Myosin-binding protein C, slow type |
| 12:101,697,640 | CHPT1 | Choline phosphotransferase 1 |
| 12:101,728,648 | SYCP3 | Synaptonemal complex protein 3 |
| 12:101,745,499 | GNPTAB | N-acetylglucosamine-1-phosphate transferase α/β |
| 12:101,877,580 | DRAM1 | Damage-regulated autophagy modulator 1 |
| 12:102,012,840 | WASHC3 | WASH complex, subunit 3 |
| 12:102,073,103 | NUP37 | Nucleoporin, 37kD |
| 12:102,120,183 | C12orf48 | Chromosome 12 open reading frame 48 |
| 12:102,196,459 | PMCH | Pro-melanin-concentrating hormone |
