KIRREL3 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

KIRREL3: Could be involved in the hematopoietic supportive capacity of stroma cells. A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24). Defects in KIRREL3 are the cause of mental retardation autosomal dominant type 4 (MRD4). Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Belongs to the immunoglobulin superfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 11q24

Cellular Component: axon; plasma membrane; extracellular region; integral to membrane; dendritic shaft

Molecular Function: protein binding

Biological Process: pontine nucleus development; neuron migration; hemopoiesis; neurite morphogenesis

Disease: Mental Retardation, Autosomal Dominant 4