LMX1A

Chr 1AD

LIM homeobox transcription factor 1 alpha

Also known as: DFNA7, LMX1, LMX1.1

NCBI Gene: 4009 ENSG00000162761 UniProt: Q8TE12 OMIM: 600298

LMX1A encodes a transcription factor that activates insulin gene transcription and is required for roof plate development in the central nervous system and specification of dorsal cell fates during embryogenesis. Mutations cause autosomal dominant nail-patella syndrome, characterized by nail dysplasia, absent or hypoplastic patellae, elbow abnormalities, and nephropathy. The gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Deafness, autosomal dominant 7MIM #601412

Clinical highlights

Gene-disease validity (ClinGen)

autosomal dominant nonsyndromic hearing loss · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted