Retinitis Pigmentosa GTPase Regulator-Interacting Protein

Alternative Names

  • RPGRIP1
  • RPGR-Interacting Protein
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OMIM Number

605446

NCBI Gene ID

57096

Uniprot ID

Q96KN7

Length

63,363 bases

No. of Exons

25

No. of isoforms

6

Protein Name

X-linked retinitis pigmentosa GTPase Regulator-Interacting Protein

Molecular Mass

146682 Da

Amino Acid Count

1286

Genomic Location

chr14:21,287,976-21,351,315

Gene Map Locus
14q11.2

Description

RPGRIP1 gene encodes for a photoreceptor protein, comprising 1286 amino acids with a molecular mass of 147 kDa. It interacts with Retinitis Pigmentosa GTPase Regulator protein, a key component of cone and rod photoreceptor cells. RPGRIP1 is also required for normal disk morphogenesis. This protein contains a coiled-coil domain that is normally found in proteins involved in vesicular trafficking and a C-terminal RPGR interacting domain (RID). RPGRIP1 is mainly expressed in amacrine cells and photoreceptors within the eye, while it localizes predominantly to outer segments (OS) of rods and cones in humans within photoreceptors. Defects in this protein are the cause of Leber congenital amaurosis type 6 (LCA6), an autosomal recessive disorder responsible for congenital blindness, or greatly impaired vision, since birth.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020366.3:c.1107delSaudi Arabiachr14:21312462PathogenicPathogenicCone-Rod Dystrophy 13; Leber Congenital Amaurosis 6NG_008933.1:g.29486del; NM_020366.3:c.1107del; NP_065099.3:p.Glu370fs6175126699809
NM_020366.3:c.2236G>ASaudi Arabiachr14:21325252PathogenicLeber Congenital Amaurosis 6NG_008933.1:g.42276G>A; NM_020366.3:c.2236G>A; NP_065099.3:p.Gly746Arg535695411
NM_020366.3:c.2608_2609insAUnited Arab EmiratesNC_000014.9:g.21326071_21326072insAPathogenicPathogenicLeber Congenital Amaurosis 6NG_008933.1:g.43095_43096insA; NM_020366.3:c.2608_2609insA; NP_065099.3:p.Leu870TyrfsTer7878853389236503
NM_020366.3:c.2662C>TSaudi Arabiachr14:21326125PathogenicPathogenicLeber Congenital Amaurosis 6NG_008933.1:g.43149C>T; NM_020366.3:c.2662C>T; NP_065099.3:p.Arg888Ter1030149008632211
NM_020366.3:c.3330T>ASaudi Arabiachr14:21334696PathogenicLeber Congenital Amaurosis 6NG_008933.1:g.51720T>A; NM_020366.3:c.3330T>A; NP_065099.3:p.Tyr1110Ter
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