spermatogenesis associated 7, Polyclonal Antibody

spermatogenesis associated 7; SPATA7; DKFZp686D07199; HSD-3.1; HSD3; MGC102934

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

Polyclonal

IgG

Rabbit

Antigen Affinity Purified

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

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.

ELISA (EIA), Western Blot (WB)

51,931 Da[Similar Products]

spermatogenesis associated 7

spermatogenesis-associated protein 7; epididymis secretory protein Li 296; spermatogenesis-associated protein HSD3

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; response to stimulus; photoreceptor cell maintenance

Disease: Leber Congenital Amaurosis 3

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