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.

Involvement in disease

Nail-patella syndrome

NPS

Disease that cause abnormal skeletal patterning and renal dysplasia.

None

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

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.

None

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

Tissue Specificity

Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.

Cellular localization

• Nucleus

Alternative names

LIM homeobox transcription factor 1-beta, LIM/homeobox protein 1.2, LIM/homeobox protein LMX1B, LMX-1.2, LMX1B

Database links

swissprot:O60663 omim:602575 genbank:U77457.1 entrezGene:4010