Anti-ARL6IP6 Antibody Picoband® fluoro647 Vervoeging

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.

Interactor of HORMAD1 protein 1; Cancer/testis antigen 74; CT74; Coiled-coil domain-containing protein 36; CCDC36; IHO1

ARL6IP6

151188

Q8N6S5

Human, Mouse, Rat

No cross-reactivity with other proteins.

A synthetic peptide corresponding to a sequence in the middle region of human ARL6IP6, identical to the related mouse and rat sequences.

Detected in liver, skeletal muscle, kidney, pancreas, spleen, thyroid, testis, ovary, small intestine and colon.

Flow Cytometry

Cell Biology

Immunogen affinity purified.

Liquid

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.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

64099 MW

6

Coiled-coil domain containing 36

Chromosome.

DAP3 binding cell death enhancer 1

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.