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Adding 0.2 mL of distilled water will yield a concentration of 500 µg/mL.
Positive Control - WB: human 293T whole cell, human Caco-2 whole cell, rat lung tissue, mouse testis tissue, mouse lung tissue. IHC: human bladder epithelial carcinoma tissue, human bladder epithelial carcinoma tissue, human gastric cancer tissue, human lung cancer tissue, human ovarian cancer tissue, human metaplasia of squamous cells of the renal pelvis tissue. ICC/IF: Caco-2 cell. Flow: HEPA1-6 cell, HL-60 cell.|Store at -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freeze-thaw cycles.
The ARL6IP6 gene has been identified as a novel candidate gene associated with a syndromic form of Cutis Marmorata Telangiectatica Congenita (CMTC), suggesting that ischemic stroke or transient ischemic attacks (TIA) might represent the mild end of the phenotypic spectrum, with autosomal recessive CMTC as the severe manifestation. The ARL6IP6 influences the susceptibility to these conditions, highlighting its importance in vascular and dermatological syndromes. Mutations in ARL6IP6 can lead to a range of phenotypic outcomes, from mild ischemic events to serious congenital skin disorders, emphasizing the need for deeper genetic and phenotypic exploration to understand its role in human pathology. Moreover, the gene is potentially involved in intracellular trafficking processes that are crucial for proper cellular function, which can be impacted by genetic variations, leading to clinical manifestations.
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Protein Aliases: ADP-ribosylation factor GTPase 6 interacting protein 6; ADP-ribosylation factor like GTPase 6 interacting protein 6; ADP-ribosylation factor-like 6 interacting protein 6; ADP-ribosylation factor-like protein 6-interacting protein 6; ADP-ribosylation-like factor 6 interacting protein 6; ADP-ribosylation-like factor 6-interacting protein 6; aip-6; ARL-6-interacting protein 6; Phosphonoformate immuno-associated protein 1; regulated by phosphonoformate
Gene Aliases: 2310057C01Rik; 2610529A11Rik; AIP-6; AIP6; ARL6IP6; PFAAP1
UniProt ID: (Human) Q8N6S5, (Mouse) Q8BH07, (Rat) Q68FV2
Entrez Gene ID: (Human) 151188, (Mouse) 65103, (Rat) 499798
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