LMX1B
LMX1B, short for LIM homeobox transcription factor 1B, is a human gene that encodes a LIM-homeodomain transcription factor. It is located on chromosome 9q34.3 and is expressed in developing limbs, particularly the dorsal limb ectoderm, as well as in the kidney’s podocytes and other tissues. LMX1B plays a key role in limb patterning and renal development, influencing the formation and differentiation of structures in these organs.
The LMX1B protein contains two N-terminal LIM domains and a C-terminal homeobox domain, which together mediate
Mutations in LMX1B cause nail-patella syndrome (NPS), an autosomal dominant disorder with variable expressivity. Classic features
Diagnosis is based on clinical findings supported by genetic testing identifying pathogenic variants in LMX1B. There