DISEASES

Disease-gene associations mined from literature

Literature associating LMX1A and chromosome 14q11-q22 deletion syndrome

LMX1A [ENSP00000340226]

LIM homeobox transcription factor 1-alpha; 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).

Synonyms:  LMX1A,  LMX1Ap,  hLMX1A,  Q8TE12,  Q8TE12p ...

Linkouts:  STRING  Pharos  UniProt