KIRREL3, Polyclonal Antibody

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

Affinity purified

Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

For short term use, store at 2-8 degree C up to 1 week. For long term storage, store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-KIRREL3 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and ***** 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.

Polyclonal; Disease Related;

Western Blot (WB)

Host: Rabbit
Target Name: KIRREL3
Sample Tissue: Human ACHN Whole Cell lysates
Antibody Dilution: 1ug/ml

85 kDa

kirre like nephrin family adhesion molecule 3

kin of IRRE-like protein 3

Kin of IRRE-like protein 3

KIAA1867; NEPH2  [Similar Products]

KIRR3_HUMAN

The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and ***** 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. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

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

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