ALB

Chr 4q13.3

albumin

MANE:: ENST00000295897.9

OMIM: 103600 ↗NCBI: 213 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ALB · P02768

v62025-08-01

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

Mean pLDDT

92.7/ 100

Very high

609 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)8%
Low(50–70)0%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial dysalbuminaemic hyperthyroxinaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hyperthyroidism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hyperthyroxinemia
0.68
congenital analbuminemia
0.68
hyperthyroidism
0.34
Ehlers-Danlos syndrome, arthrochalasia type
0.33
Ehlers-Danlos syndrome, arthrochalasic type
0.33
placental abruption
0.26
alcohol drinking
0.24
seasonal allergic rhinitis
0.23
hereditary disease
0.19
metabolic disease
0.16

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

Protein function (UniProt)

Fas-binding factor 1

Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis