免 疫 原：KLH conjugated synthetic peptide derived from human LMX1b/NPS1
抗原表位：111-210/379
SWISS：O60663
Gene ID ：4010
Human Gene ID：4010

This gene encodes 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Function：Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.
Subcellular Location：Nucleus.
Tissue Specificity：Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.
DISEASE：Defects in LMX1B are the cause of nail-patella syndrome (NPS) [MIM:161200]; also known as onychoosteodysplasia. NPS is a disease that cause abnormal skeletal patterning and renal dysplasia.
Similarity：Contains 1 homeobox DNA-binding domain.
Contains 2 LIM zinc-binding domains.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.