Eyes Shut Homolog

Alternative Names

  • EYS
  • Eyes Shut, Drosophila, Homolog of
  • Spacemaker
  • SPAM

Associated Diseases

Retinitis Pigmentosa 25
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OMIM Number

612424

NCBI Gene ID

346007

Uniprot ID

Q5T1H1

Length

1,987,247 bases

No. of Exons

46

No. of isoforms

4

Protein Name

Protein Eyes Shut Homolog

Molecular Mass

350796 Da

Amino Acid Count

3165

Genomic Location

chr6:63,719,979-65,707,225

Gene Map Locus
6q12

Description

The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001142800.2:c.875_890delinsTTTCTSaudi Arabiachr6:65405340-65405355PathogenicPathogenicRetinitis Pigmentosa 25NG_023443.2:g.306871_306886delinsTTTCT; NM_001142800.2:c.875_890delinsTTTCT; NP_001136272.1:p.Glu292fs1582249186829892
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