Retinal Degeneration 3

Alternative Names

  • RD3
  • Retinal Degeneration 3, Mouse, Homolog Of
  • Chromosome 1 Open Reading Frame 36
  • C1orf36
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OMIM Number

180040

NCBI Gene ID

343035

Uniprot ID

Q7Z3Z2

Length

15,641 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Protein RD3

Molecular Mass

22704 Da

Amino Acid Count

195

Genomic Location

chr1:211,476,521-211,492,161

Gene Map Locus
1q32.3

Description

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_183059.2:c.137_138delAlgeriaNC_000001.11:g.211481279_211481280delPathogenicLeber Congenital Amaurosis 12NG_013042.1:g.16639_16640del; NM_183059.2:c.137_138del; NP_898882.1:p.Glu46AlafsTer26786205149189793
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