2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
microtubule cytoskeletonregulation of signal transductionhair colorgestational diabetesCerebral degenerationTrichiasis
Based on limited published evidence, LRRIQ1 is a leucine-rich repeat and IQ motif-containing protein associated with microtubule cytoskeleton organization. A genome-wide association study identified a locus at 12q21.31 containing LRRIQ1 associated with plasma inhibin B levels 1. The gene resides in a genomic region containing a distal enhancer (Alx1-DE1) that regulates ALX1 expression during craniofacial development, though this enhancer's presence within LRRIQ1 introns does not indicate direct LRRIQ1 function in this process 2.
1
GWAS identified LRRIQ1 at locus 12q21.31 associated with plasma inhibin B levels in male reproductive function
PMID: 323414572
Alx1-DE1 enhancer located within LRRIQ1 introns regulates ALX1 expression in craniofacial development
PMID: 41850652β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
gestational diabetesOpen Targets
Cerebral degenerationOpen Targets
Non-Neoplastic Bile Duct DisorderOpen Targets
spermatogenic failure 3Open Targets
spermatogenic failure 55Open Targets
spermatogenic failure 83Open Targets
spermatogenic failure 7Open Targets
spermatogenic failure 16Open Targets
spermatogenic failure 21Open Targets
spermatogenic failure 29Open Targets
spermatogenic failure 58Open Targets
spermatogenic failure, X-linked, 5Open Targets
spermatogenic failure 79Open Targets
chronic hepatitisOpen Targets
spermatogenic failure 10Open Targets
spermatogenic failure 11Open Targets
No pathogenic variants reported on ClinVar for this gene.