LMBR1L Chromosome 12

Limb development membrane protein 1 like

2 variants 2 Health Risk

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What This Gene Does

Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (1)

DSD incomplete virilization

Key Variants

RS202075719

Likely pathogenic

DSD incomplete virilization, DSD incomplete virilization

Health Risk

RS758828358

Likely pathogenic

DSD incomplete virilization, DSD incomplete virilization

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS202075719	Health Risk	Likely pathogenic	DSD incomplete virilization, DSD incomplete virilization
RS758828358	Health Risk	Likely pathogenic	DSD incomplete virilization, DSD incomplete virilization