DCHS1

Chr 11p15.4

dachsous cadherin-related 1

Aliases:: FIB1, KIAA1773, FLJ11790, CDHR6
MANE:: ENST00000299441.5

OMIM: 603057 ↗NCBI: 8642 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DCHS1 · Q96JQ0

Mean pLDDT

Not published

AlphaFold has not published a prediction for this sequence. This is common for very long proteins.

Confidence breakdown

Check AlphaFold DB

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

van Maldergem syndrome 1
0.74
mitral valve prolapse
0.67
Cerebro-facio-articular syndrome
0.60
Periventricular heterotopia
0.55
mitral valve prolapse, myxomatous 2
0.50
periventricular nodular heterotopia
0.38
familial mitral valve prolapse
0.37
neurodegenerative disease
0.36
Abnormality of the skeletal system
0.35
alcohol drinking
0.21

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

Protein function (UniProt)

Protocadherin-16

Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation (PubMed:26258302)