APCDD1
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-Glycosylated.
Sequence Similarities
Belongs to the APCDD1 family.
Tissue Specificity
Abundantly expressed in heart, pancreas, prostate and ovary. Moderately expressed in lung, liver, kidney, spleen, thymus, colon and peripheral lymphocytes. Abundantly expressed in both the epidermal and dermal compartments of the hair follicle. Present in scalp skin Highly expressed in the hair follicle dermal papilla, the matrix, and the hair shaft (at protein level).
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
DRAPC1, FP7019, APCDD1, Protein APCDD1, Adenomatosis polyposis coli down-regulated 1 protein