LMX1B

LMX1B is a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome.

Full Name

LMX1B

Function

Transcription factor involved in the regulation of podocyte-expressed genes (PubMed:24042019, PubMed:28059119).
Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.

Biological Process

Dopaminergic neuron differentiationISS:ParkinsonsUK-UCL
Dorsal/ventral pattern formationISS:UniProtKB
Neuron differentiationISS:UniProtKB
Positive regulation of transcription by RNA polymerase IIISS:ParkinsonsUK-UCL
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Nucleus

Involvement in disease

Nail-patella syndrome (NPS):
Disease that cause abnormal skeletal patterning and renal dysplasia.
Focal segmental glomerulosclerosis 10 (FSGS10):
An autosomal dominant form of focal segmental glomerulosclerosis, a renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.