LMX1A

Function

Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae (By similarity).

Involvement in disease

Deafness, autosomal dominant, 7

DFNA7

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA7 is a progressive form with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue Specificity

Isoform 1 is expressed in many tissues. Not found in heart, liver, spleen and testis. Relatively highly expressed in fetal brain. Isoform LMX1A-4AB is expressed in testis.

Cellular localization

• Nucleus

Alternative names

LIM homeobox transcription factor 1-alpha, LIM/homeobox protein 1.1, LIM/homeobox protein LMX1A, LMX-1.1, LMX1A

Database links

swissprot:Q8TE12 entrezGene:4009 genbank:AY078391.1 omim:600298