Spermatogenesis-Associated Protein 7

Alternative Names

  • SPATA7
  • HSD3
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OMIM Number

609868

NCBI Gene ID

55812

Uniprot ID

Q9P0W8

Length

85,427 bases

No. of Exons

16

No. of isoforms

3

Protein Name

Spermatogenesis-Associated Protein 7

Molecular Mass

67719 Da

Amino Acid Count

599

Genomic Location

chr14:88,385,637-88,470,349

Gene Map Locus
14q31.3

Description

The SPATA7 gene is mapped to chromosome 14q31.3. It encodes a protein of 599 amino acids, which is expressed in the testes and the retina. The function of SPATA1 is not well known, although it is known to be involved in retinal function. There is evidence to show that SPATA7 is a ciliary protein, and that it directly interacts with the retinitis pigmentosa GTPase regulator interacting protein 1. Defects in this protein are the cause of Leber Congenital Amaurosis 3 (LCA3) and Autosomal Recessive Retinitis Pigmentosa (ARRP).

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_018418.5:c.1171C>TYemenchr14:88437553PathogenicLeber Congenital Amaurosis 3NG_021183.1:g.56910C>T; NM_018418.5:c.1171C>T; NP_060888.2:p.Arg391Ter374268850489379
NM_018418.5:c.288T>AUnited Arab EmiratesNC_000014.9:g.88416760T>APathogenicLeber Congenital Amaurosis 3NG_021183.1:g.36117T>A; NM_018418.5:c.288T>A; NP_060888.2:p.Cys96Ter767745816191050
NM_018418.5:c.322C>TSaudi Arabiachr14:88416794PathogenicLeber Congenital Amaurosis 3NG_021183.1:g.36151C>T; NM_018418.5:c.322C>T; NP_060888.2:p.Arg108Ter800442811395
NM_018418.5:c.960dupArab; Saudi Arabiachr14:88429395PathogenicLeber Congenital Amaurosis 3NG_021183.1:g.48752dup; NM_018418.5:c.960dup; NP_060888.2:p.Pro321fs3868342411396
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