APCDD1

APCDD1 is an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.

Full Name

APC Down-Regulated 1

Function

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.

Biological Process

Hair follicle development Source: UniProtKB
Negative regulation of Wnt signaling pathway Source: UniProtKB
Wnt signaling pathway Source: UniProtKB-KW

Cellular Location

Cell membrane

Involvement in disease

Hypotrichosis 1 (HYPT1): A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HYPT1 inheritance is autosomal dominant.

Topology

Extracellular: 27-492 aa
Helical: 493-512 aa
Cytoplasmic: 513-514 aa

PTM

N-Glycosylated.