HMX1

Chr 4p16.1

H6 family homeobox 1

Aliases:: H6, NKX5-3
MANE:: ENST00000400677.5

OMIM: 142992 ↗NCBI: 3166 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

HMX1 · Q9NP08

v62025-08-01

Predicted Aligned Error matrix for HMX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.8/ 100

Low

348 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)7%
Low(50–70)40%
Very low(< 50)35%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Corneal abnormalities
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Deafness and congenital structural abnormalities
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ocular coloboma
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

oculoauricular syndrome
0.75
Oculoauricular syndrome, Schorderet type
0.72
neurodegenerative disease
0.52
Isolated anophthalmia - microphthalmia
0.34
cartilage disease
0.25
hereditary disease
0.19
myalgic encephalomeyelitis/chronic fatigue syndrome
0.18
stroke disorder
0.18
alcohol drinking
0.18
Retinal dystrophy
0.16

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

Protein function (UniProt)

Homeobox protein HMX1

DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear