2024年12月25日 · NSDHL (NAD (P) Dependent Steroid Dehydrogenase-Like) is a Protein Coding gene. Diseases associated with NSDHL include Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects and Ck Syndrome. Among its related pathways are superpathway of cholesterol biosynthesis and Cholesterol metabolism.

该基因的突变与 CHILD 综合征有关，CHILD 综合征是一种 X 连锁的显性脂质代谢紊乱，胆固醇生物合成受到干扰，通常对男性是致命的。 已发现该基因具有不同 5' UTR 的选择性剪接转录物变体。 [RefSeq 提供，2008 年 7 月] The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in Cholesterol biosynthesis.

2003年11月15日 · NSDHL, for NAD(P)H steroid dehydrogenase-like, encodes a sterol dehydrogenase or decarboxylase involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. Mutations in this gene are associated with human CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects), an X-linked ...

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene. [5][6] This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. [7]

2025年2月8日 · NSDHL, an enzyme involved in cholesterol synthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. A novel missense mutation (R199H) in exon 6 of the NSDHL gene was identified in a small subset of sporadic verruciform xanthomas.

2024年11月8日 · Our findings revealed that NSDHL plays an important role in maintaining the BCSC population and tumor-initiating capacity of ER-positive MCF-7 spheroids, suggesting that NSDHL is an attractive therapeutic target for eliminating BCSCs, thus preventing breast cancer initiation and progression.

NSDHL promotes triple-negative breast cancer metastasis through the TGFβ signaling pathway and cholesterol biosynthesis. PURPOSE Metastasis is the main cause of breast cancer mortality. Recent studies have proved that lipid metabolic reprogramming plays critical roles in breast cancer carcinogenesis and metastasis.

The NSDHL gene provides instructions for making an enzyme that is involved in the production (synthesis) of cholesterol. Learn about this gene and related health conditions.

2024年10月10日 · Clinical resource with information about NSDHL, Child syndrome, CK syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2003年11月15日 · NSDHL, for NAD(P)H steroid dehydrogenase-like, encodes a sterol dehydrogenase or decarboxylase involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. Mutations in this gene are associated with human CHILD syndrome (congenital hemidysplasia with ichthyo …