Home > Product > Antibody > Rabbit Anti-KIRREL3/FITC Conjugated antibody
Kin of IRRE like 3 (Drosophila); Kin of IRRE like 3; Kin of irregular chiasm like protein 3 ; KIRRE; KIRREL 3; KIRREL-3; MRD4; NEPH2; Nephrin like 2; PRO19814; PRO4502; yUNQ5923; KIRR3_HUMAN.
Cat:
SL11864R-FITC
Species Reactivity:
(predicted: Human,Mouse,Rat,Chicken,)
Immunogen:
KLH conjugated synthetic peptide derived from human KIRREL3
Format:
Lyophilized or Liquid
Storage instructions:
Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant
Buffer:
0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
Flow-Cyt=1:50-200ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
Calculated MW:
83kDa
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Unit:
Price: $
Product PDFs
Datasheet:


background:
NEPH2 is a 778 amino acid single-pass type I membrane protein that belongs to the nephrin-like protein family and immunoglobulin superfamily. Expressed in both fetal and adult brain, as well as podocytes of kidney glomeruli, NEPH2 contains five Ig-like C2-type (immunoglobulin-like) domains and is thought to plaly a role in the hematopoetic supportive capacity of stroma cells. NEPH2 undergoes alternative splicing to produce two isoforms and contains a SLCterminal cytoplasmic domain which it uses to interact with Podocin, a podocyte protein involved in ultrafiltration. Defects in the gene encoding NEPH2 are associated with mental retardation autosomal dominant type 4 (MRD4).

Function:
NEPH2 is a member of the nephrin like protein family, which includes NEPH1 (KIRREL; MIM 607428) and NEPH3 (KIRREL2; MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size and charge selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).

Subunit:
Interacts with the SLCterminus of NPHS2/podocin. Interacts with CASK.

Subcellular Location:
Cell membrane; Single-pass type I membrane protein

Tissue Specificity:
Expressed in fetal and adult brain. Also expressed in kidney, specifically in podocytes of kidney glomeruli.

DISEASE:
Note=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) [MIM:612581]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.

Similarity:
Belongs to the immunoglobulin superfamily.
Contains 5 Ig-like C2-type (immunoglobulin-like) domains.

Database links:

Entrez Gene: 84623 Human

Entrez Gene: 67703 Mouse

Entrez Gene: 315546 Rat

Omim: 607761 Human

SwissProt: Q8IZU9 Human

SwissProt: Q8BR86 Mouse

Unigene: 376015 Human

Unigene: 220710 Mouse

Unigene: 7602 Rat



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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