LZTFL1 Chromosome 3
Leucine zipper transcription factor like 1
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What This Gene Does
This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020]
Associated Conditions (4)
LZTFL1-related disorder
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Key Variants
RS781281594
Conflicting classifications of pathogenicity
LZTFL1-related disorder, Bardet-Biedl syndrome 17, LZTFL1-related disorder
Health Risk
RS1354476372
Likely pathogenic
Bardet-Biedl syndrome 17, LZTFL1-related disorder, Bardet-Biedl syndrome 17
Health Risk
RS1553612629
Likely pathogenic
Health Risk
RS1700875869
Likely pathogenic
Health Risk
RS2125680264
Likely pathogenic
Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17
Health Risk
RS2529787009
Likely pathogenic
Health Risk
RS751242409
Likely pathogenic
Health Risk
RS1247421714
Pathogenic
Health Risk
RS2529751468
Pathogenic
Health Risk
RS2529763524
Pathogenic
Health Risk
RS2529764469
Pathogenic
Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17
Health Risk
RS2529777952
Pathogenic
Bardet-Biedl syndrome, Bardet-Biedl syndrome
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781281594 | Health Risk | Conflicting classifications of pathogenicity | LZTFL1-related disorder, Bardet-Biedl syndrome 17, LZTFL1-related disorder |
| RS1354476372 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 17, LZTFL1-related disorder, Bardet-Biedl syndrome 17 |
| RS1553612629 | Health Risk | Likely pathogenic | — |
| RS1700875869 | Health Risk | Likely pathogenic | — |
| RS2125680264 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17 |
| RS2529787009 | Health Risk | Likely pathogenic | — |
| RS751242409 | Health Risk | Likely pathogenic | — |
| RS1247421714 | Health Risk | Pathogenic | — |
| RS2529751468 | Health Risk | Pathogenic | — |
| RS2529763524 | Health Risk | Pathogenic | — |
| RS2529764469 | Health Risk | Pathogenic | Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17 |
| RS2529777952 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2529813625 | Health Risk | Pathogenic | — |
| RS431825171 | Health Risk | Pathogenic | Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17 |
| RS515726135 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 1 |
| RS515726136 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 1 |
| RS769327864 | Health Risk | Pathogenic | — |
| RS1374806070 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17 |