Gene Symbol | LRIT3 |
Entrez Gene ID | 345193 |
Full Name | leucine rich repeat, Ig-like and transmembrane domains 3 |
Synonyms | CSNB1F,FIGLER4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]. |
Disorder MIM: | |
Disorder Html: | Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3) |