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Article

Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.

Journal of cellular physiology - 1 Jun 2022

Qiu Yi-Ling, Wang Li, Huang Min, Lian Min, Wang Fengbin, Gong Ying, Ma Xiong, Hao Chen-Zhi, Zhang Jing, Li Zhong-Die, Xing Qing-He, Cao Muqing, Wang Jian-She

Abstract excerpt

TMEM67 (mecklin or MKS3) locates in the transition zone of cilia. Dysfunction of TMEM67 disrupts cilia-related signaling and leads to developmental defects of multiple organs in humans. Typical autosomal recessive TMEM67 defects cause partial overlapping phenotypes, including abnormalities in the brain, eyes, liver, kidneys, bones, and so forth. However, emerging reports of isolated nephronophthisis suggest the...

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PMID: 35621037
DOI: 10.1002/jcp.30788

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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