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RS1 retinoschisin 1 [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000330 Homo sapiens retinoschisin 1 (RS1), mRNA. ORF Sequence $195.75
Peptide Services
Antibody Services
Protein Services


Gene Symbol RS1
Entrez Gene ID 6247
Full Name retinoschisin 1
Synonyms RS, XLRS1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp22.13

Summary This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008].
Disorder

MIM: 300839

mRNA Protein Product Sequence Price Select
NM_000330, 205277455 NP_000321, 10835083 retinoschisin precursor Full Length $1064.00
ORF Sequence $195.75
Homo sapiens (human)RS1NP_000321.1
Macaca mulatta (Rhesus monkey)RS1XP_002806207.1
Canis lupus familiaris (dog)RS1XP_548882.2
Bos taurus (cattle)RS1XP_002700424.2
Mus musculus (house mouse)Rs1NP_035432.3
Rattus norvegicus (Norway rat)Rs1NP_001098113.1
Gallus gallus (chicken)RS1NP_001128447.1
Danio rerio (zebrafish)rs1NP_001003438.1
GeneCards RS1
UniProt O15537, Q0QD39
MIM 300839
Ensembl ENSG00000102104
HGNC 10457
HPRD 02426

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
retinoschisin
Names
retinoschisin
X-linked juvenile retinoschisis protein

Interactant

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