KLB Chromosome 4
Klotho beta
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What This Gene Does
Enables fibroblast growth factor binding activity and fibroblast growth factor receptor binding activity. Predicted to be involved in carbohydrate metabolic process. Predicted to act upstream of or within positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway and positive regulation of cell population proliferation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Glycoside hydrolase family 1|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
4p14
Ensembl
ENSG00000134962
Associated Conditions (3)
KLB-related disorder
Hypogonadotropic hypogonadism
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Key Variants
RS144449983
Conflicting classifications of pathogenicity
Health Risk
RS187055696
Conflicting classifications of pathogenicity
Health Risk
RS35733674
Conflicting classifications of pathogenicity
KLB-related disorder, KLB-related disorder
Health Risk
RS373228895
Conflicting classifications of pathogenicity
Health Risk
RS549659598
Conflicting classifications of pathogenicity
KLB-related disorder, Hypogonadotropic hypogonadism, KLB-related disorder
Health Risk
RS758019530
Conflicting classifications of pathogenicity
Health Risk
RS2474965849
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144449983 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS187055696 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS35733674 | Health Risk | Conflicting classifications of pathogenicity | KLB-related disorder, KLB-related disorder |
| RS373228895 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS549659598 | Health Risk | Conflicting classifications of pathogenicity | KLB-related disorder, Hypogonadotropic hypogonadism, KLB-related disorder |
| RS758019530 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2474965849 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |