InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPATA7

Summary

InnateDB Protein

IDBP-593040.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SPATA7

Protein Name

spermatogenesis associated 7

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000451128

InnateDB Gene

IDBG-14963 (SPATA7)

Protein Structure

UniProt Annotation

Function

May be involved in retinal function.

Subcellular Localization

Disease Associations

Leber congenital amaurosis 3 (LCA3) [MIM:604232]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:19268277}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.