LMX1A Chromosome 1
LIM homeobox transcription factor 1 alpha
Upload your DNA to see your personal genotypes for variants in LMX1A.
What This Gene Does
This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
LIM class homeoboxes
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000162761
Associated Conditions (3)
Sensorineural hearing loss disorder
Autosomal-Recessive Hereditary Hearing Impairment
Autosomal dominant nonsyndromic hearing loss 7
Key Variants
RS200643176
Conflicting classifications of pathogenicity
Health Risk
RS763320093
Conflicting classifications of pathogenicity
Sensorineural hearing loss disorder, Autosomal-Recessive Hereditary Hearing Impairment, Sensorineural hearing loss disorder
Health Risk
RS2102637875
Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
Health Risk
RS776905403
Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
Health Risk
RS1396081975
Pathogenic
Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
Health Risk
RS1571147567
Pathogenic
Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
Health Risk
RS1571177726
Pathogenic
Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
Health Risk
RS2526238512
Pathogenic
Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200643176 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763320093 | Health Risk | Conflicting classifications of pathogenicity | Sensorineural hearing loss disorder, Autosomal-Recessive Hereditary Hearing Impairment, Sensorineural hearing loss disorder |
| RS2102637875 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7 |
| RS776905403 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7 |
| RS1396081975 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7 |
| RS1571147567 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7 |
| RS1571177726 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7 |
| RS2526238512 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7 |