APCDD1

Chr 18p11.22

APC down-regulated 1

Aliases:: B7323
MANE:: ENST00000355285.10

OMIM: 607479 ↗NCBI: 147495 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

APCDD1 · Q8J025

v62025-08-01

Predicted Aligned Error matrix for APCDD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.8/ 100

Confident

514 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)15%
Low(50–70)4%
Very low(< 50)18%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ectodermal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic hypotrichosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hypotrichosis simplex
0.62
hypotrichosis 1
0.56
androgenetic alopecia
0.40
neurodegenerative disease
0.34
hypertrophic cardiomyopathy
0.31
gout
0.29
aortic valve stenosis
0.25
hyperaldosteronism
0.24
bacterial arthritis
0.23
adrenal gland hyperfunction
0.23

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

Protein function (UniProt)

Protein APCDD1

Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis