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Protein-coding gene in humans
Planar Polarity Effector 1 is a protein that in humans is encoded by the CPLANE1 gene. GRCh38: Ensembl release 89: ENSG00000197603 – Ensembl, May 2017 GRCm38:
CPLANE1
Autosomal recessive genetic disorder
recessive JBTS16 614465 TMEM138 11q12.2 Autosomal recessive JBTS17 614615 CPLANE1 5p13.2 JBTS18 614815 TCTN3 10q24.1 JBTS19 614844* ZNF423 16q12.1 Autosomal
Joubert_syndrome
Developmental disorder involving the eye
Oculoauricular syndrome GJA1 AD, AR Oculodentodigital dysplasia (ODD) CPLANE1 AR Orofaciodigital syndrome type VI LRP5 AR Osteoporosis-pseudoglioma syndrome
Syndromic_microphthalmia
Human chromosome
flagella-associated protein 90 CDO1: encoding protein Cysteine dioxygenase type 1 CPLANE1: Ciliogenesis And Planar Polarity Effector 1 CPLX2: Complexin-2 CREBRF:
Chromosome_5
Genetic disease resulting in abnormal formation or function of cilia
Joubert syndrome 213300 AHI1, ATXN10, ARL13B, BRCC3, CC2D2A, CEP41, CEP290, CPLANE1, INPP5E, KIF7, NPHP1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TMEM67, TMEM138, TMEM216
Ciliopathy
3482 CPHXL HGNC:51815; A0A1W2PPM1 3483 CPHXL2 HGNC:55919; A0A1W2PPK0 3484 CPLANE1 HGNC:25801; Q9H799 3485 CPLANE2 HGNC:28127; Q9BU20 3486 CPLX1 HGNC:2309;
List of human protein-coding genes 2
List_of_human_protein-coding_genes_2
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