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Protein Page:

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. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 14q31.3
Cellular Component: axoneme; cytosol; microtubule cytoskeleton; mitochondrion; nucleoplasm; photoreceptor connecting cilium
Molecular Function: protein binding
Biological Process: photoreceptor cell maintenance; response to stimulus; visual perception
Disease: Leber Congenital Amaurosis 3
Reference #:  Q9P0W8 (UniProtKB)
Alt. Names/Synonyms: DKFZp686D07199; HSD-3.1; HSD3; LCA3; MGC102934; SPAT7; SPATA7; spermatogenesis associated 7; Spermatogenesis-associated protein 7; Spermatogenesis-associated protein HSD3
Gene Symbols: SPATA7
Molecular weight: 67,719 Da
Basal Isoelectric point: 5.9  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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