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Search references for RPGRIP1. Phrases containing RPGRIP1
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Search references for RPGRIP1. Phrases containing RPGRIP1
See searches and references containing RPGRIP1!RPGRIP1
Protein-coding gene in the species Homo sapiens
in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the
RPGRIP1
Group of eye diseases related to poor retinal and nerve perfusion
mutations in several genes, including MYOC, ASB10, WDR36, NTF4, TBK1, and RPGRIP1. Many of these genes are involved in critical cellular processes that are
Glaucoma
Dog breed
million dogs that had undergone genetic screening identified the gene RPGRIP1 as being prevalent in 4.65% of Pumi dogs. This gene is responsible for
Pumi_dog
Rare inherited eye disease
brain); ALMS1, CCT2, CEP290, CLUAP1, IFT140, IQCB1, LCA5, MYO7A, RD3, RPGRIP1, SPATA7, and TULP1 in maintaining the cilia on photoreceptor cells; LRAT
Leber_congenital_amaurosis
InterPro Family
RPGRIP1-like Identifiers Symbol RPGRIP1L Alt. symbols NPHP8, KIAA1005, CORS3, JBTS7, MKS5, FTM NCBI gene 23322 HGNC 29168 OMIM 610937 RefSeq NM_015272
RPGRIP1L
Protein structure at the base of cilia or flagella
Swaroop, A.; Wright, A. F. (2005). "RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin". Human
Basal_body
Protein-coding gene in the species Homo sapiens
(2005). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med. Genet. 42
AIPL1
Dong-Hyun; Li, Tiansen; Andréasson, Sten; Berson, Eliot L. (May 2001). "Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis". The American Journal
Thaddeus_Dryja
Protein-coding gene in the species Homo sapiens
(2006). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med. Genet. 42
CRB1
Protein found in humans
been shown to interact with PDE6D nephronophthisis (NPHP) proteins and RPGRIP1. Binding to PDE6D has been shown to ensure ciliary localization of the
Retinitis pigmentosa GTPase regulator
Retinitis_pigmentosa_GTPase_regulator
Protein domain
RASA2; RASA3; RASA4; RASAL1; RASAL2; RGS3; RIMS1; RIMS2; RIMS3; RIMS4; RPGRIP1; RPGRIP1L; RPH3A; SGA72M; SMURF1; SMURF2; SYNGAP1; SYT1; SYT10; SYT11;
C2_domain
Q9H9Y2 13974 RPF2 HGNC:20870; Q9H7B2 13975 RPGR HGNC:10295; Q92834 13976 RPGRIP1 HGNC:13436; Q96KN7 13977 RPGRIP1L HGNC:29168; Q68CZ1 13978 RPH3A HGNC:17056;
List of human protein-coding genes 7
List_of_human_protein-coding_genes_7
Protein-coding gene in the species Homo sapiens
Letteboer SJ, Arts HH, et al. (2006). "Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated
NPHP4
RAXL1 Cone–rod dystrophy 12; 612657; PROM1 Cone–rod dystrophy 13; 608194; RPGRIP1 Cone–rod dystrophy 14; 602093; GUCA1A Cone–rod dystrophy 15; 613660; CDHR1
List_of_OMIM_disorder_codes
RPGRIP1
RPGRIP1
RPGRIP1
RPGRIP1
Boy/Male
Hindu, Indian, Marathi
Support; Pillar
Surname or Lastname
English (Lincolnshire) and Scottish
English (Lincolnshire) and Scottish : from an Old English personal name Tocca.German : from a short form of the Germanic personal name Theodicho, formed with Germanic theod- ‘people’, ‘tribe’. Compare Dietrich.Jewish (eastern Ashkenazic) : metonymic occupational name for a turner, from Yiddish tok ‘turner’s lathe’ (see Tokar).
Girl/Female
Hindu, Indian, Marathi, Tamil
Adorning; Decoration
Boy/Male
Hindu, Indian, Telugu
Extreme Happiness
Girl/Female
Indian
Loyal
Boy/Male
African, Australian, British, Celtic, Danish, English, Irish, Norse, Scandinavian, Scottish, Swedish
King; Tower; Watchtower; God of Thunder; Victory; Castle
Girl/Female
Tamil
Arpitha | à®…à®°à¯à®ªà®¿à®¤à®¾
Dedicate, Presenting
Boy/Male
Gujarati, Hindu, Indian
Full of Knowledge; Long Life; Part of Your Heart; Part of Life; Daring; Persuasive
Male
Greek
(Θωθ) Greek form of Egyptian Djehuty, THOTH means "he who balances." In mythology, this is the name of a god of the moon, magic and science.
Girl/Female
Muslim
Light
RPGRIP1
RPGRIP1
RPGRIP1
RPGRIP1
RPGRIP1