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Article

INF2 mutations cause kidney disease through a gain-of-function mechanism.

Science advances - 15 Nov 2024

Subramanian Balajikarthick, Williams Sarah, Karp Sophie, Hennino Marie-Flore, Jacas Sonako, Lee Miriam, Riella Cristian V, Alper Seth L, Higgs Henry N, Pollak Martin R

Abstract excerpt

Heterozygosity for inverted formin-2 (INF2) mutations causes focal segmental glomerulosclerosis (FSGS) with or without Charcot-Marie-Tooth disease. A key question is whether the disease is caused by gain-of-function effects on INF2 or loss of function (haploinsufficiency). Despite established roles in multiple cellular processes, neither INF2 knockout mice nor mice with a disease-associated point mutation display...

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Identifiers

PMID: 39536114
DOI: 10.1126/sciadv.adr1017
PMCID: PMC11559609

Genes

INF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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INF2 mutations cause kidney disease through a gain-of-function mechanism.PMID 39536114Read ↗

Missense Mutant Gain-of-Function Causes Inverted Formin 2 (INF2)-Related Focal Segmental Glomerulosclerosis (FSGS)Semantic proximity Read ↗

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Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis.Semantic proximity Read ↗

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