SPATA7 Antibody – Rabbit Polyclonal

SPATA7: May be involved in retinal function. Defects in SPATA7 are the cause of Leber congenital amaurosis type 3 (LCA3). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in SPATA7 are a cause of retinitis pigmentosa autosomal recessive (ARRP). ARRP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP 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. 3 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 14q31.3

Cellular Component: microtubule cytoskeleton; axoneme; photoreceptor connecting cilium

Molecular Function: protein binding

Biological Process: visual perception; photoreceptor cell maintenance; response to stimulus

Disease: Leber Congenital Amaurosis 3