Description
Antibody Name: | KIRREL3 Antibody (PACO10115) |
Antibody SKU: | PACO10115 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB |
Recommended Dilutions: | |
Species Reactivity: | Human, Mouse, Rat |
Immunogen: | Human KIRREL3 |
Form: | Liquid |
Storage Buffer: | PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
Purification Method: | Antigen Affinity purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Synonyms: | kin of IRRE like 3 (Drosophila);KIRREL3;KIAA1867;KIRRE;MGC126824;MGC126850;MRD4;NEPH2;PRO4502 ; |
UniProt Protein Function: | 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, integralChromosomal Location of Human Ortholog: 11q24Cellular Component: axon; plasma membrane; extracellular region; integral to membrane; dendritic shaftMolecular Function: protein bindingBiological Process: pontine nucleus development; neuron migration; hemopoiesis; neurite morphogenesisDisease: Mental Retardation, Autosomal Dominant 4 |
UniProt Protein Details: | |
NCBI Summary: | 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] |
UniProt Code: | Q8IZU9 |
NCBI GenInfo Identifier: | 26006461 |
NCBI Gene ID: | 84623 |
NCBI Accession: | NP_115920 |
UniProt Secondary Accession: | Q8IZU9,Q3MIJ7, Q6UWJ9, Q6UWL5, Q96JG0 |
UniProt Related Accession: | Q8IZU9 |
Molecular Weight: | Predicted: 64; 84 kDaObserved: 60 kDa |
NCBI Full Name: | kin of IRRE-like protein 3 isoform 1 |
NCBI Synonym Full Names: | kin of IRRE like 3 (Drosophila) |
NCBI Official Symbol: | KIRREL3 |
NCBI Official Synonym Symbols: | MRD4; KIRRE; NEPH2; PRO4502 |
NCBI Protein Information: | kin of IRRE-like protein 3; nephrin-like 2; nephrin-like protein 2; kin of irregular chiasm-like protein 3 |
UniProt Protein Name: | Kin of IRRE-like protein 3 |
UniProt Synonym Protein Names: | Kin of irregular chiasm-like protein 3; Nephrin-like protein 2 |
Protein Family: | |
UniProt Gene Name: | KIRREL3 |
UniProt Entry Name: | KIRR3_HUMAN |