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| SPATA7 | Spermatogenesis associated 7. (571 aa) | ||||
| USH1C | Harmonin; Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (By similarity). (551 aa) | ||||
| CDHR1 | Cadherin-related family member 1; Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity). (877 aa) | ||||
| RHO | Rhodopsin; Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth (By similarity). Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change that activates signaling via G- proteins. Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling. (348 aa) | ||||
| TUB | Tubby-like protein; Belongs to the TUB family. (524 aa) | ||||
| NPHP3 | Nephrocystin 3. (1331 aa) | ||||
| ADGRV1 | Adhesion G protein-coupled receptor V1; Belongs to the G-protein coupled receptor 2 family. (6307 aa) | ||||
| BBS12 | BBS12 protein. (708 aa) | ||||
| BBS4 | Bardet-Biedl syndrome 4 protein homolog; May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the [...] (519 aa) | ||||
| RP1 | Oxygen-regulated protein 1; Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity). (2105 aa) | ||||
| CLRN1 | Clarin 1. (232 aa) | ||||
| IQCB1 | IQ motif containing B1. (598 aa) | ||||
| ATP1B2 | Sodium/potassium-transporting ATPase subunit beta-2; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known. (290 aa) | ||||
| PROM1 | Prominin 1. (864 aa) | ||||
| NXNL1 | Nucleoredoxin like 1. (218 aa) | ||||
| USH1G | USH1 protein network component sans. (462 aa) | ||||
| ABCA4 | ATP binding cassette subfamily A member 4. (2281 aa) | ||||
| TULP1 | Tubby-like protein; Belongs to the TUB family. (546 aa) | ||||
| BBS1 | BBS1 domain-containing protein. (667 aa) | ||||
| CDH23 | Uncharacterized protein. (3354 aa) | ||||
| NXNL2 | Nucleoredoxin like 2. (156 aa) | ||||
| BBS2 | Bardet-Biedl syndrome 2 protein homolog. (721 aa) | ||||
| CNGB1 | Cyclic nucleotide-gated cation channel beta-1; Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP (By similarity). (952 aa) | ||||
| CRB1 | Crumbs cell polarity complex component 1. (1407 aa) | ||||
| MAK | Male germ cell associated kinase. (623 aa) | ||||
| CROCC | Ciliary rootlet coiled-coil, rootletin. (1984 aa) | ||||
| SLC2A1 | Solute carrier family 2, facilitated glucose transporter member 1; Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses. Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain. (492 aa) | ||||
| CRB2 | Crumbs cell polarity complex component 2. (1281 aa) | ||||
| NPHP4 | Nephrocystin 4. (1430 aa) | ||||
| ERCC6 | ERCC excision repair 6, chromatin remodeling factor. (1481 aa) | ||||
| MKKS | Uncharacterized protein. (570 aa) | ||||
| USH2A | Usherin. (5204 aa) | ||||
| CLCN3 | Chloride channel protein. (872 aa) | ||||
| CLN8 | TLC domain-containing protein. (278 aa) | ||||
| DRAM2 | DNA damage-regulated autophagy modulator protein 2; Plays a role in the initiation of autophagy. In the retina, might be involved in the process of photoreceptor cells renewal and recycling to preserve visual function. Induces apoptotic cell death when coexpressed with DRAM1; Belongs to the DRAM/TMEM150 family. (266 aa) | ||||
| BBS10 | Bardet-Biedl syndrome 10. (721 aa) | ||||
| USP45 | Ubiquitin carboxyl-terminal hydrolase; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Belongs to the peptidase C19 family. (817 aa) | ||||