![]() See identical proteins and their annotated locations for NP_710142.1 Location: 302 → 383 tolA_full TolA protein pfam03879 The resulting protein (isoform a) has a distinct C-terminus and is shorter than isoform b3. Status: REVIEWED Description Transcript Variant: This variant (1) has multiple differences in the coding region, compared to variant b3, one of which results in a translational frameshift. See identical proteins and their annotated locations for NP_005700.2 Location: 283 → 364 tolA_full TolA protein pfam03879 Location: 2 → 80 harmonin_N N-terminal protein-binding module of harmonin TIGR02794 May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal). Location: 85 → 165 PDZ_signaling PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. The resulting protein (isoform c) has a distinct C-terminus and is shorter than isoform b3. Status: REVIEWED Description Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant b3, one of which results in a translational frameshift. See identical proteins and their annotated locations for NP_001284693.1 ![]() NG_011883.2 RefSeqGene Range 5001.55517 Download GenBank, FASTA, Sequence Viewer (Graphics) This section to the one reported in Genomic regions, Identify version mismatches by comparing the version of the RefSeq in These reference sequences are curated independently of the genomeĪnnotation cycle, so their versions may not match the RefSeq versions in the current These reference sequences exist independently of genome builds. Expression Biased expression in small intestine (RPKM 13.7), duodenum (RPKM 13.0) and 6 other tissues See more Orthologs mouse all NEW Try the new Gene table Multiple transcript variants encoding different isoforms have been found for this gene. ![]() Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. but if this website can help at least one person, then that's one person difference.Full Name USH1 protein network component harmonin provided by HGNC Primary source HGNC:HGNC:12597 See related Ensembl:ENSG00000006611 MIM:605242 AllianceGenome:HGNC:12597 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominidae Homo Also known as PDZ73 AIE-75 DFNB18 PDZ-45 PDZ-73 PDZD7C DFNB18A NY-CO-37 NY-CO-38 ush1cpst PDZ-73/NY-CO-38 Summary This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. Even though I know chances of me making a huge difference in really slim. He also has never lost hope in searching for a cure.īy creating this website, I hope I can help other people that are also suffering this disease to have a better understanding on what Retinitis Pigmentosa is and some latest researches on this. He's a successful businessman that has business around the world, I have no doubt he will be more successful if he's a perfectly healthy man. He has been diagnosed with RP for a dozen years already but he still provided me a lot of things most parents can't. My dad isn't the only person with Retinitis Pigmentosa, but he's defiantly one of the strongest people. People with RP experience a gradual decline in their vision because of photoreceptors degenerate.įorms of RP and related diseases include Usher syndrome, Leber congenital amaurosis, and Bardet-Biedl syndrome, among others. Rod and cone photoreceptors in the retina convert light into electrical signals that the brain interprets as vision. ![]() The retina is a thin piece of tissue lining the back of the eye. This website is about Retinitis Pigmentosa, It is a kind of disease of Retinitis pigmentosa, also known as RP, refers to a group of inherited diseases causing retinal degeneration. ![]()
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