amino acid sequence of rhodopsin
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AMINO ACID SEQUENCEBIOKIMIA
Dinar Famora A (201310410311153)Raramiyati F (201310410311166)Tya Pratiwi (201310410311172)
Farmasi d
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RHODOPSIN
(HOMOSAPIENS)
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SUMMARY
Retinitis pigmentosa is an inherited progressive disease which is a major cause of
blindness in western communities. It can be inherited as an autosomal dominant,
autosomal recessive, or X-linked recessive disorder. In the autosomal dominant
form,which comprises about 25% of total cases, approximately 30% of families
have mutations in the gene encoding the rod photoreceptor-specific protein
rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the
visual transduction cascade. Defects in this gene are also one of the causes of
congenital stationary night blindness. [provided by RefSeq, Jul 2008].
Sequence Note: The RefSeq transcript and protein were derived from genomic
sequence to make the sequence consistent with the reference genome assembly. The
genomic coordinates used for the transcript record were based on alignments.
Publication Note: This RefSeq record includes a subset of the publications that are
available for this gene. Please see the Gene record to access additional publications.
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RINGKASANRetinitis pigmentosa adalah penyakit progresif genetis yang menjadi penyebab utama kebutaan pada masyarakat barat. Hal ini dapat diturunkan sebagai dominan autosomal, resesif autosomal atau gangguan resesif pada X-linked. Pada dominan autosomal terdiri atas 25% dari total kasus, sekitar 30% keluarga mengalami mutasi pada gen yang mengkodekan spesifik fotoreseptor protein rodhopsin. Pada transmembran protein, ketika terjadi fotoexcited akan menyebabkan transduksi visual kaskade. Kerusakan pada gen ini juga merupakan salah satu penyebab terjadinya rabun senja bawaan. [Oleh Resfeq, Jul 2008].
Catatan urutan: RefSeq transkrip dan protein yang berasal dari urutan genom untuk membuat urutan yang cocok dengan kumpulan referensi genom. Koordinat genom digunakan untuk merekam transkrip yang didasarkan pada penjajaran.
Catatan publikasi: Catatan RefSeq ini termasuk publikasi yang tersedia untuk gen ini. Silakan lihat catatan gen untuk mengakses publikasi tambahan.
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