4385 Desmosterol Desmosterol is an intermediate in the synthesis of cholesterol. Desmosterolosis is a rare autosomal recessive inborn errors of cholesterol synthesis that is caused by defective activity of desmosterol reductase which results in an accumulation of demosterol (DHCR24, EC 1.3.1.72), combines a severe osteosclerotic skeletal dysplasia and includes 2-3 toe syndactyly with Smith-Lemli-Opitz syndrome (SLOS; the biochemical block in SLOS results in decreased cholesterol levels and increased 7-dehydrocholesterol levels). Desmosterolosis is caused by mutation of the 24-dehydrocholesterol reductase gene (DHCR24). Many of the malformations in SLOS and desmosterolosis are consistent with impaired hedgehog function. The hedgehog proteins include Sonic hedgehog (SHH), which plays a major role in midline patterning and limb development. Desmosterolosis, caused by defective activity of desmosterol reductase, combines a severe osteosclerotic skeletal dysplasia. 7-dehydrocholesterol reductase (DHCR7, EC 1.3.1.21) reduces the C7-C8 double bond in the sterol B ring to form cholesterol or desmosterol depending upon the precursor. Desmosterol can be converted to cholesterol by DHCR24. Therefore, SLOS and Desmosterolosis patients invariably have elevated levels of cholesterol precursor's 7-dehydrocholesterol (and its spontaneous isomer 8-dehydrocholesterol) and absent desmosterol. (A3421, A3422). 313-04-2 439577 C27H44O White powder. 121.5°C No indication of carcinogenicity to humans (not listed by IARC). This is an endogenously produced metabolite found in the human body. It is used in metabolic reactions, catabolic reactions or waste generation. 2014-08-29T06:28:28Z 2026-03-26T23:28:37Z C01802 17737 CPD-4141 true [H][C@@]12CC[C@H]([C@H](C)CCC=C(C)C)[C@@]1(C)CC[C@@]1([H])[C@@]2([H])CC=C2C[C@@H](O)CC[C@]12C C27H44O InChI=1S/C27H44O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h7,9,19,21-25,28H,6,8,10-17H2,1-5H3/t19-,21+,22+,23-,24+,25+,26+,27-/m1/s1 AVSXSVCZWQODGV-DPAQBDIFSA-N 384.6377 384.33921603 Endogenous Solid HMDB02719 CHEMBL455876 388662 Kircher, Henry W.; Rosenstein, Fumiko U. Preparation of desmosterol from (20S,22R,S)-3b-acetoxychola-5,23-dien-22-ol. Journal of Organic Chemistry (1987), 52(12), 2586-8. CHEM003291 DTXSID10878676 NS00005490 20.23 121.46649999999998 49.66598287203385 4 1 1 18.20428950550382 -1.3972437702926293 0 4 6.62 -6.53 1.14e-04 g/l