Anti-ARL6IP6 Antibody Picoband® Fluoro647 Conjugated

ADP ribosylation factor like GTPase 6 interacting protein 6 is a protein that in the humans is encoded by the ARL6IP6 gene. ARL6IP6 (ADP-ribosylation-like factor 6 interacting protein 6), also known as PFAAP1 (phosphonoformate immuno-associated protein 1), is a 226 amino acid multi-pass membrane protein that belongs to the ARL6IP6 family and is encoded by a gene that maps to human chromosome 2q23.3. A 2q23.3 novel microdeletion involving seven genes, including ARL6IP6, is linked to a proposed 2q23q24 microdeletion syndrome. Additional chromosome 2q deletions, which also include ARL6IP6, are linked to autism, developmental delays and communication impairment. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. Chromosome 2 contains a probable vestigial second centromere, as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.

Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with MEI4 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. Not required for HORMAD1 functions in pairing-independent synaptonemal complex formation, ATR recruitment to unsynapsed axes, meiotic silencing of unsynapsed chromatin (MSUC) or meiotic surveillance.

1. Abumansour, I. S., Hijazi, H., Alazmi, A., Alzahrani, F., Bashiri, F. A., Hassan, H., Alhaddab, M., Alkuraya, F. S. ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic cutis marmorata telangiectatica congenita. Hum. Genet. 134: 815-822, 2015. 2. Hartz, P. A. Personal Communication. Baltimore, Md. 7/28/2015. 3. Ingley, E., Williams, J. H., Walker, C. E., Tsai, S., Colley, S., Sayer, M. S., Tilbrook, P. A., Sarna, M., Beaumont, J. G., Klinken, S. P. A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61-beta subunit. FEBS Lett. 459: 69-74, 1999.