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gdf5 | Growth differentiation factor 5. (474 aa) | ||||
ift57 | Intraflagellar transport protein 57 homolog; Required for the formation of cilia. Essential for differentiation and survival of sensory neurons. May also have pro- apoptotic function. (407 aa) | ||||
bsg | Basigin. (404 aa) | ||||
nxnl2 | Nucleoredoxin-like 2. (156 aa) | ||||
mkks | McKusick-Kaufman syndrome. (563 aa) | ||||
poc1b | POC1 centriolar protein homolog B; Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Belongs to the WD repeat POC1 family. (490 aa) | ||||
pafah1b1b | Lissencephaly-1 homolog B; Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. May be required for proliferation of neuronal precursors and neuronal migration (By similarity). Involved in the positioning of nuclei in photoreceptor cells. (410 aa) | ||||
dctn2 | Dynactin subunit 2; Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development (By similarity). (405 aa) | ||||
vstm4a | V-set and transmembrane domain-containing 4a. (329 aa) | ||||
ift172 | Intraflagellar transport protein 172 homolog; Required for the maintenance and formation of cilia. (1745 aa) | ||||
crocc2 | Ciliary rootlet coiled-coil, rootletin family member 2. (1959 aa) | ||||
vstm4b | V-set and transmembrane domain-containing 4b. (357 aa) | ||||
gdf6a | Growth/differentiation factor 6-A; Growth factor that controls proliferation and cellular differentiation in the retina. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map. Functions maternally in dorsal/ventral patterning to induce the expression of the zygotic bmp2b and bmp4 genes and ventralize embryos. Zygotic expression does not appear to regulate axis specification, but instead functions to establish the integrity of the axial vessels during embryon [...] (404 aa) | ||||
crb2a | Crumbs cell polarity complex component 2a. (1466 aa) | ||||
ush2a | Usher syndrome 2A (autosomal recessive, mild). (5236 aa) | ||||
cluap1 | Clusterin-associated protein 1 homolog; Required for cilia biogenesis and maintenance in the kidney, the lateral line organ and eye. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Belongs to the CLUAP1 family. (427 aa) | ||||
whrna | Whirlin a. (939 aa) | ||||
bbs1 | Bardet-Biedl syndrome 1. (588 aa) | ||||
bbs4 | Bardet-Biedl syndrome 4. (528 aa) | ||||
ush1c | Usher syndrome 1C (Autosomal recessive, severe). (548 aa) | ||||
emc3 | ER membrane protein complex subunit 3. (261 aa) | ||||
nphp4 | Si:dkey-202c5.1 protein. (189 aa) | ||||
rp1 | RP1 axonemal microtubule-associated. (259 aa) | ||||
lca5 | Lebercilin LCA5. (754 aa) | ||||
nrf1 | Nuclear respiratory factor 1; Probable transcription factor that is required for normal development of the outer retina. (504 aa) | ||||
nxnl1 | Nucleoredoxin-like protein 1; May play a role in cone cell viability, slowing down cone degeneration, does not seem to play a role in degenerating rods. Belongs to the nucleoredoxin family. (215 aa) | ||||
usp45 | Ubiquitin carboxyl-terminal hydrolase 45; May be involved in the maintenance of photoreceptor function. Belongs to the peptidase C19 family. (803 aa) | ||||
ercc6 | Excision repair cross-complementation group 6. (1389 aa) | ||||
whrnb | Whirlin b. (946 aa) | ||||
rp2 | Protein XRP2; Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane (By similarity). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization (By similarity). In the retina, required for maintenance of rod and cone photoreceptor cells. May have a role in normal retinal localization of the transducins GNB1 and GNAT1, and the rhodopsin kinase GRK1. (376 aa) | ||||
bbs10 | Bardet-Biedl syndrome 10. (151 aa) | ||||
cln8 | CLN8 transmembrane ER and ERGIC protein. (289 aa) | ||||
cep290 | Centrosomal protein of 290 kDa; Involved in early and late steps in cilia formation. May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in regulation of the BBSome complex integrity and in ciliary targeting of selected BBSome cargos. Required for the correct localization of ciliary and photot [...] (2439 aa) | ||||
shha | Sonic hedgehog protein A N-product; Sonic hedgehog protein: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the reticulum endoplasmic (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By similarity). (418 aa) | ||||
rp1l1b | Rp1-like 1b. (3919 aa) | ||||
rp1l1a | Rp1-like 1a. (2394 aa) | ||||
crb2b | Crumbs cell polarity complex component 2b. (1010 aa) | ||||
iqcb1-2 | IQ motif-containing B1. (421 aa) | ||||
iqcb1 | IQ motif-containing B1. (595 aa) | ||||
crb1 | Crumbs cell polarity complex component 1. (1428 aa) | ||||
clrn1 | Clrn1 protein. (232 aa) | ||||
eys-2 | Protein eyes shut homolog; Required to maintain the integrity of photoreceptor cells. Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone. Belongs to the EYS family. (296 aa) | ||||
bbs12 | Bardet-Biedl syndrome 12. (763 aa) | ||||
spata7 | Spermatogenesis-associated 7. (500 aa) |