HMX1 Chromosome 4
H6 family homeobox 1
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What This Gene Does
This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
4p16.1
Ensembl
ENSG00000215612
Associated Conditions (3)
Inborn genetic diseases
Isolated microphthalmia 6
Oculoauricular syndrome
Key Variants
RS1236050379
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS192543787
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS763505877
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2474393026
Pathogenic
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
RS63751898
Pathogenic
Oculoauricular syndrome, Oculoauricular syndrome
Health Risk
RS876657398
Pathogenic
Oculoauricular syndrome, Oculoauricular syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1236050379 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS192543787 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763505877 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2474393026 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS63751898 | Health Risk | Pathogenic | Oculoauricular syndrome, Oculoauricular syndrome |
| RS876657398 | Health Risk | Pathogenic | Oculoauricular syndrome, Oculoauricular syndrome |