Genomic coordinate 7:128,241,278
Here I present: “Leptin Dysfunction Obesity”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (LEP) 瘦素肥胖。icd10=E88.82
INTRODUCTION.
Leptin is a 16-kD protein that plays a critical role in the regulation of body weight by inhibiting food intake and stimulating energy expenditure. Defects in leptin production cause severe hereditary obesity in humans. In addition to its effects on body weight, leptin has a variety of other functions, including the regulation of hematopoiesis, angiogenesis, wound healing, and the immune and inflammatory response. Leptin acts through the leptin receptor (LEPR), a single-transmembrane-domain receptor of the cytokine receptor family.
There is evidence that leptin deficiency & dysfunction obesity is caused by homozygous mutation in the LEP gene on cytogenetic location 7q32.1 and genomic coordinates 7:128,241,278-128,257,629. The screenshot of LEP gene 16,352 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides LEP in the 7q32.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:127,610,292 | PAX4 | Paired box homeotic gene-4 |
| 7:127,652,194 | P100 | EBNA-2 coactivator p100 |
| 7:128,027,071 | LRRC4 | Leucine-rich repeat-containing protein 4 |
| 7:128,207,872 | MIR129-1 | Micro RNA 129-1 |
| 7:128,241,278 | LEP | Leptin Obesity |
| 7:128,297,685 | RBM28 | RNA-binding motif protein 28 |
| 7:128,392,277 | IMPDH1 | Inosine-5′-monophosphate dehydrogenase-1 |
| 7:128,455,878 | HILPDA | Hypoxia-inducible lipid droplet protein |
| 7:128,476,748 | METTL2B | Methyltransferase 2B, methylcytidine |
| 7:128,671,629 | GARIN1A | Golgi-associated Rab2 interactor 1A |
