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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LRRC34
leucine rich repeat containing 34
Chromosome 3 · 3q26.2
NCBI Gene: 151827Ensembl: ENSG00000171757.17HGNC: HGNC:28408UniProt: B3KT77
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
telomere maintenancenucleusnucleoluscytoplasmneurodegenerative diseaseprostate carcinomaidiopathic pulmonary fibrosismultiple myeloma
✦AI Summary

LRRC34 is a leucine-rich repeat protein with dual roles in pluripotency regulation and telomere maintenance. In pluripotent stem cells, LRRC34 localizes to the nucleolus where it interacts with nucleolar proteins NPM1 and NCL, suggesting involvement in ribosome biogenesis 1. The protein is essential for maintaining normal expression of pluripotency regulators including Oct4/POU5F1 and KLF4, and promotes stem cell proliferation and expansion in vitro 2. LRRC34 is similarly critical for spermatogonial stem cell (SSC) maintenance, with knockdown reducing colony formation and altering apoptotic pathways 2. In telomere biology, LRRC34 represents a major genetic contributor to telomere length regulation; downregulation reduces telomerase activity and telomere length, while LRRC34 interacts with Oct4 to connect pluripotency networks to telomere maintenance 3. LRRC34 is the most significant gene associated with telomere length variation 4, with variants contributing to newborn telomere length phenotypes 5. Disease relevance includes associations with papillary thyroid carcinoma, where missense variants alter RANBP1 binding and affect cell migration and apoptosis 6, and ciliopathies, where deleterious LRRC34 variants impair ciliary function 7. These findings establish LRRC34 as a multifunctional regulator bridging stem cell pluripotency, telomere homeostasis, and disease pathogenesis.

Sources cited
1
LRRC34 is a nucleolar protein interacting with NPM1 and NCL, highly expressed in pluripotent stem cells with impact on Oct4 expression
PMID: 24991885
2
LRRC34 is highly expressed in spermatogonial stem cells and necessary for SSC proliferation and colony formation
PMID: 32299535
3
LRRC34 regulates telomere length and telomerase activity in embryonic stem cells and interacts with Oct4
PMID: 34549596
4
LRRC34 is the most significant gene associated with telomere length in genome-wide association studies
PMID: 30559463
5
LRRC34 genetic variants on chromosome 3q26.2 are associated with newborn telomere length variation
PMID: 35073935
6
LRRC34 missense variants affect papillary thyroid carcinoma risk through altered RANBP1 binding and changes in cell migration
PMID: 32051256
7
Deleterious LRRC34 variants are associated with ciliopathies and supported by functional assays on patient-derived fibroblasts
PMID: 32055034
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.35Weak
idiopathic pulmonary fibrosisOpen Targets
0.29Weak
multiple myelomaOpen Targets
0.22Weak
interstitial lung diseaseOpen Targets
0.22Weak
postinflammatory pulmonary fibrosisOpen Targets
0.20Weak
chronic lymphocytic leukemiaOpen Targets
0.20Weak
cutaneous melanomaOpen Targets
0.19Weak
uterine fibroidOpen Targets
0.19Weak
Epidermal Inclusion CystOpen Targets
0.18Weak
female genital tract polypOpen Targets
0.17Weak
multiple sclerosisOpen Targets
0.16Weak
respiratory system diseaseOpen Targets
0.16Weak
systemic lupus erythematosusOpen Targets
0.16Weak
lymphoid leukemiaOpen Targets
0.12Weak
myeloproliferative disorderOpen Targets
0.12Weak
autismOpen Targets
0.11Weak
Joubert syndromeOpen Targets
0.11Weak
melanocytic nevusOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYNNProtein interaction81%ACTRT3Protein interaction81%LRRIQ4Protein interaction74%SMIM46Shared pathway50%C8orf90Shared pathway50%SMIM44Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
63%
Ovary
48%
Heart
36%
Lung
28%
Liver
9%
Gene Interaction Network
Click a node to explore
LRRC34MYNNACTRT3LRRIQ4SMIM46C8orf90SMIM44
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 · 4.10 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.63–1.15]
RankingsWhere LRRC34 stands among ~20K protein-coding genes
  • #15,045of 20,598
    Most Researched17
  • #12,002of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedLRRC34
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The morbid genome of ciliopathies: an update.
PMID: 32055034
Genet Med · 2020
1.00
2
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.
PMID: 38091523
Elife · 2023
0.90
3
Lrrc34, a novel nucleolar protein, interacts with npm1 and ncl and has an impact on pluripotent stem cells.
PMID: 24991885
Stem Cells Dev · 2014
0.80
4
Variants in
PMID: 32051256
J Med Genet · 2020
0.70
5
Lrrc34 Is Highly Expressed in SSCs and Is Necessary for SSC Expansion
PMID: 32299535
Chin Med Sci J · 2020
0.60