RP1-Like Protein 1

Alternative Names

  • RP1L1
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OMIM Number

608581

NCBI Gene ID

94137

Uniprot ID

Q8IWN7

Length

105,839 bases

No. of Exons

4

No. of isoforms

2

Protein Name

Retinitis pigmentosa 1-like 1 protein

Molecular Mass

252289 Da

Amino Acid Count

2400

Genomic Location

chr8:10,606,349-10,712,187

Gene Map Locus
8p23.1

Description

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals.This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_178857.6:c.5484G>CLebanonchr8:10608614Likely PathogenicOccult Macular DystrophyNG_028035.1:g.51494G>C; NM_178857.6:c.5484G>C; NP_849188.4:p.Gln1828His977623581
NM_178857.6:c.5959C>TSaudi ArabiaNC_000008.11:g.10608139G>ABenign, Uncertain SignificanceLikely PathogenicRetinitis Pigmentosa 88NG_028035.1:g.51969C>T; NM_178857.6:c.5959C>T; NP_849188.4:p.Gln1987Ter200846354425431
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