RPGRIP1-Like

Alternative Names

  • RPGRIP1L
  • Nephrocystin 8
  • NPHP8
  • KIAA1005
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OMIM Number

610937

NCBI Gene ID

23322

Uniprot ID

Q68CZ1

Length

105,707 bases

No. of Exons

37

No. of isoforms

2

Protein Name

Protein fantom

Molecular Mass

151201 Da

Amino Acid Count

1315

Genomic Location

chr16:53,598,152-53,703,858

Gene Map Locus
16q12.2

Description

The RPGRIP1L gene encodes a protein that localizes to the basal body-centrosome complex in ciliated cells.  It interacts with the ciliary protein NPHP4 and is responsible for negatively regulating signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R).  Based on mouse ortholog studies, the protein is also predicted to play a role in the determination of left/right symmetry, in-utero embryonic development and programmed cell death.

The gene is associated with the overlapping allelic disorders Joubert Syndrome 7 (JBTS7), Meckel Syndrome type 5 (MKS5) and COACH syndrome.  Joubert Syndrome 7 is a congenital ciliopathy defined by cerebellar vermis hypoplasia and brainstem malformations that result in a ‘molar tooth sign’ on brain imaging studies.  Affected patients also suffer from developmental delay, ataxia, hypotonia, nephronophthisis and ocular anomalies such as oculomotor apraxia and nystagmus.  Meckel Syndrome, type 5 is an often fatal, severe disorder characterized by occipital encephalocele, polydactly of the hands and feet, and cystic dysplasia of the kidneys.  COACH syndrome is a multisystem disorder characterized by cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015272.5:c.1582-1G>CUnited Arab EmiratesNC_000016.10:g.53656590C>GLikely PathogenicLikely PathogenicCoach Syndrome 3NG_008991.2:g.52270G>C; NM_015272.5:c.1582-1G>C; NP_056087.2:p.?7509175381481429
NM_015272.5:c.1649A>GSaudi ArabiaNC_000016.10:g.53656522T>CPathogenicLikely PathogenicJoubert Syndrome 7NG_008991.2:g.52338A>G; NM_015272.5:c.1649A>G; NP_056087.2:p.Gln550Arg772900011942932

Other Reports

Saudi Arabia

Al-Hamed et al. (2016) ascertained the underlying gene defects in a cohort of 44 Saudi families affected by antenatal cystic kidney disease.  In one consanguineous family, the antenatal ultrasound examination found cystic kidneys along with oligohydramnios/anhydramnios.  The proband had three other affected siblings and the case resulted in fetal death.  Genetic screening of 90 renal genes found the fetus to be compound heterozygous for known mutations in the RPGRIP1L gene (c.640G>A p.V214I; C.685G>A, p.A229T).  The first mutation was predicted to be pathogenic while the second was shown to compromise the interaction of RPGRIP1L with RPGR.  

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