Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.

doi:10.1172/jci.insight.121596

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Article

Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.

JCI insight - 26 Jul 2018

Kondo Yuji, Fu Jianxin, Wang Hua, Hoover Christopher, McDaniel J Michael, Steet Richard, Patra Debabrata, Song Jianhua, Pollard Laura, Cathey Sara, Yago Tadayuki, Wiley Graham, Macwana Susan, Guthridge Joel, McGee Samuel, Li Shibo, Griffin Courtney, Furukawa Koichi, James Judith A, Ruan Changgeng, McEver Rodger P, Wierenga Klaas J, Gaffney Patrick M, Xia Lijun

Abstract excerpt

Site-1 protease (S1P), encoded by MBTPS1, is a serine protease in the Golgi. S1P regulates lipogenesis, endoplasmic reticulum (ER) function, and lysosome biogenesis in mice and in cultured cells. However, how S1P differentially regulates these diverse functions in humans has been unclear. In addition, no human disease with S1P deficiency has been identified. Here, we report a pediatric patient with an amorphic...

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Identifiers

PMID: 30046013
DOI: 10.1172/jci.insight.121596
PMCID: PMC6124414

Genes

MBTPS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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