KLB

Chr 4p14

klotho beta

MANE:: ENST00000257408.5

OMIM: 611135 ↗NCBI: 152831 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KLB · Q86Z14

v62025-08-01

Predicted Aligned Error matrix for KLB — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.4/ 100

Confident

1,044 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)12%
Low(50–70)3%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hypogonadotropic hypogonadism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

congenital hypogonadotropic hypogonadism
0.46
gout
0.40
type 2 diabetes mellitus
0.39
cancer
0.38
alcohol-related disorders
0.35
Addictive alcohol use
0.35
asthma
0.28
heart failure
0.28
vitamin B deficiency
0.28
hepatocellular carcinoma
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Beta-klotho

Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 (By similarity)