HMX1: H6 Family Homeobox 1
A key transcription factor in craniofacial and eye development
Gene Information Card
| Symbol | HMX1 |
|---|---|
| Full Name | H6 Family Homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 3166 ncbi.nlm.nih.gov/gene/3166 |
| Ensembl ID | ENSG00000138613 |
| UniProt ID | Q9NP74 |
| OMIM ID | 142992 |
| HGNC ID | 5017 |
| Aliases | H6, NKX5-3, HMX1 |
Description
HMX1 (H6 Family Homeobox 1) is a protein-coding gene that encodes a homeobox transcription factor essential for normal craniofacial and eye development. It is a member of the H6 homeobox family and acts as a transcriptional regulator during embryogenesis. Mutations in HMX1 are associated with Oculoauricular syndrome (OAS), a rare autosomal recessive disorder characterized by microphthalmia, cataracts, and ear abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oculoauricular syndrome (OAS) | Loss-of-function mutations in HMX1 disrupt transcription factor activity, impairing development of the eye and ear structures. | OMIM #612109; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Eye | 2.5 | Medium |
| Heart | 0.3 | Low |
| Kidney | 0.1 | Not detected |
| Liver | 0.1 | Not detected |
| Lung | 0.2 | Not detected |
| Muscle | 0.1 | Not detected |
| Spleen | 0.1 | Not detected |
| Testis | 0.4 | Low |
| Thyroid | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 1.2 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 0.6 | Low expression |
| HeLa (cervical carcinoma) | 0.1 | Not detected |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.517C>T (p.Arg173Ter) | Nonsense | Rare | Loss of function; associated with Oculoauricular syndrome |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with Oculoauricular syndrome |
| c.404G>A (p.Arg135Gln) | Missense | Rare | Likely loss of function; reported in OAS |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, causing Oculoauricular syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Gene Ontology)
• Homeobox transcription factor regulation
Protein Summary
The HMX1 protein is a 348-amino acid homeobox transcription factor containing a conserved homeodomain that mediates sequence-specific DNA binding. It localizes to the nucleus and regulates expression of target genes involved in craniofacial and ocular morphogenesis. The protein is expressed during embryonic development in the eye, ear, and brain regions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HMX1 Knockout HEK293 Cell Line | EDJ-KQ50355 | Human | 3166 | Details Get a Quote |
| HMX1 Knockout HeLa Cell Line | EDJ-KQ53535 | Human | 3166 | Details Get a Quote |
| HMX1 Knockout A-549 Cell Line | EDJ-KQ62008 | Human | 3166 | Details Get a Quote |
| HMX1 Knockout HCT 116 Cell Line | EDJ-KQ70485 | Human | 3166 | Details Get a Quote |
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