SPATA7, Polyclonal Antibody

Spermatogenesis-associated protein 7; HSD-31; Spermatogenesis-associated protein HSD3; SPATA7; HSD3

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This SPATA7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 374-401 amino acids from the C-terminal region of human SPATA7.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-SPATA7 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

This gene, originally isolated from testis, is also
expressed in retina. Mutations in this gene are associated with
Leber congenital amaurosis and juvenile retinitis pigmentosa.
Alternatively spliced transcript variants encoding different
isoforms have been found for this gene.

Neuroscience

Western Blot (WB), ELISA (EIA)

WB~~1:1000

SPATA7 Antibody (C-term) western blot analysis in A549 cell line lysates (35ug/lane).This demonstrates the SPATA7 antibody detected the SPATA7 protein (arrow).

67719

spermatogenesis associated 7

spermatogenesis-associated protein 7

Spermatogenesis-associated protein 7

HSD3  [Similar Products]

SPAT7_HUMAN

This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

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

Perrault, I., et al. Hum. Mutat. 31 (3), E1241-E1250 (2010) :
Wang, H., et al. Am. J. Hum. Genet. 84(3):380-387(2009)
Zhang, X., et al. J. Mol. Med. 81(6):380-387(2003)
Heilig, R., et al. Nature 421(6923):601-607(2003)

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