The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 65 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the mot abundant in all tissues tested.
Involvement in disease
Defects in FAM161A are the cause of retinitis pigmentosa type 28 (RP28) [MIM:606068]. A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Karlstetter M et al. Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Hum Mol GenetN/A:N/A (2014).
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