Genomic coordinate 8:18,055,992
Here I present: “Farber Lipogranulomatosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 法伯脂肪肉芽腫病。icd10=E75.2
INTRODUCTION.
Farber lipogranulomatosis is a progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase is responsible for breaking down ceramide into sphingosine and fatty acid. When the enzyme is deficient, this leads to an accumulation of fatty material (called ceramide) in the lysosomes of the cells, leading to the signs and symptoms of this disorder.
Ceramidase (Enzyme Commission number EC 3.5.1.23) is an enzyme which cleaves fatty acids from ceramide, producing sphingosine which in turn is phosphorylated by a sphingosine kinase to form sphingosine-1-phosphate.
Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a neonatal form of the disease with death occurring before 1 year of age.
Reaction: N-acylsphingosine + H2O = carboxylate + sphingosine is catalyzed by N-acylsphingosine amidohydrolase-1 (Enzyme Commission number EC 3.5.1.23)
and the (ASAH1) gene is encoded on cytogenetic location 8p22 and genomic coordinates 8:18,055,992-18,084,961. The screenshot of the (ASAH1) gene 28,970 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ASAH1 in the 8p22 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:17,576,433 | PDGFRL | Platelet-derived growth factor receptor-like |
| 8:17,643,802 | MTUS1 | Microtubule-associated scaffold protein 1 |
| 8:17,864,389 | FGL1 | Fibrinogen-like 1 |
| 8:17,922,988 | PCM1 | Pericentriolar material 1 |
| 8:18,055,992 | ASAH1 | N-acylsphingosine amidohydrolase 1 |
| 8:18,170,467 | NAT1 | Arylamine N-acetyltransferase-1 |
| 8:18,386,301 | NAT2 | Arylamine N-acetyltransferase-2 |
| 8:18,527,303 | PSD3 | Pleckstrin and Sec7 domains protein 3 |
| 8:19,200,001 | SCZD6 | Schizophrenia susceptibility locus, 8p-related |
| 8:19,313,693 | SH2D4A | SH2 domain-containing protein 4A |
