MEOX1

Chr 17q21.31

mesenchyme homeobox 1

Aliases:: MOX1
MANE:: ENST00000318579.9

OMIM: 600147 ↗NCBI: 4222 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MEOX1 · P50221

v62025-08-01

Predicted Aligned Error matrix for MEOX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.5/ 100

Low

254 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)4%
Low(50–70)45%
Very low(< 50)31%

Open interactive 3D viewer

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
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
Familial Neural Tube Defects

Disease associations (Open Targets)

Klippel-Feil syndrome 2, autosomal recessive
0.71
Cervical C2/C3 vertebral fusion
0.46
Klippel-Feil syndrome
0.38
Klippel-Feil syndrome 1, autosomal dominant
0.38
isolated Klippel-Feil syndrome
0.38
cervical carcinoma
0.27
bone fracture
0.22
mitral valve prolapse
0.21
Dupuytren Contracture
0.20
upper extremity fracture
0.20

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

Protein function (UniProt)

Homeobox protein MOX-1

Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints (PubMed:23290072, PubMed:24073994). Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. Required for hematopoietic stem cell (HSCs) induction via its role in somitogenesis: specification of HSCs occurs via the deployment of a specific endothelial precursor population, which arises within a sub-compartment of the somite named endotome