C3orf52

Chr 3q13.2

chromosome 3 open reading frame 52

Aliases:: FLJ23186, TTMP
MANE:: ENST00000264848.10

OMIM: 611956 ↗NCBI: 79669 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

C3orf52 · Q5BVD1

v62025-08-01

Predicted Aligned Error matrix for C3orf52 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.9/ 100

Confident

217 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)29%
Low(50–70)7%
Very low(< 50)22%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Non-syndromic hypotrichosis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypotrichosis 15
0.61
Apnea
0.25
Abnormality of the integument
0.04
enthesopathy
0.04
placental retention
0.03
lacrimal apparatus disorder
0.02
oral cavity squamous cell carcinoma
0.01
chronic interstitial cystitis
0.01
hypotrichosis
0.01
neoplasm
0.01

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

Protein function (UniProt)

TPA-induced transmembrane protein

Has a role in LIPH-mediated synthesis of 2-acyl lysophosphatidic acid (LPA). LPA is a bioactive lipid mediator involved in different biological processes, and necessary to promote hair formation and growth