PTCHD1

Chr Xp22.11

patched domain containing 1

Aliases:: SLC65C1, FLJ30296
MANE:: ENST00000379361.5

OMIM: 300828 ↗NCBI: 139411 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PTCHD1 · Q96NR3

v62025-08-01

Predicted Aligned Error matrix for PTCHD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.2/ 100

Confident

888 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)45%
Low(50–70)5%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

hereditary disease
0.50
autism
0.47
atrial fibrillation
0.39
X-linked complex neurodevelopmental disorder
0.37
Intellectual disability
0.34
cardiac arrhythmia
0.32
non-syndromic X-linked intellectual disability
0.29
neurodegenerative disease
0.28
autism spectrum disorder
0.27
Abnormal brain morphology
0.27

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

Protein function (UniProt)

Patched domain-containing protein 1

Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention. Can bind cholesterol in vitro (PubMed:36769003)

Curated MONDO disease pages that list PTCHD1 among their top associated genes.

autismRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with PTCHD1