This gene encodes a protein that has a fibronectin type III domain and a SLCterminal 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]
Subcellular Location:
Membrane.
Similarity:
Contains 1 fibronectin type-III domain.
Contains 1 Ig-like (immunoglobulin-like) domain.
Contains 4 LRR (leucine-rich) repeats.
Contains 1 LRRCT domain.
SWISS:
Q3SXY7
Gene ID:
345193
Database links:
Entrez Gene: 345193 Human
Omim: 63004 Human
SwissProt: Q3SXY7 Human
Unigene: 308127 Human
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