Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
NYX nyctalopin	CLRP , NBM1 , CSNB1 , CSNB4 , CSNB1A	Homo sapiens	2	protein-coding	LRRTM1 , RTN4RL1 , LRRC15 , LRRTM3 , LRRTM4 , LRRC24 , RTN4RL2 , LRRN2 , LRRN1 , GP1BA , LRRC3C , CHAD , LRRC3B , LRRN3 , LRRC17 , LRRC32 , VASN , ELFN2 , ELFN1 , IGFALS , LRIG3 , LRIG2 , LRIG1 , LINGO1 , TRIL , LINGO4 , TLR3 , CD180 , CPN2 , LINGO3 , LINGO2 , CHADL		300278

Summary

The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]

GeneOntology

Go ID	Value	Evidence
0003674	enables molecular_function	ND

Go ID	Value	Evidence
0031012	is_active_in extracellular matrix	IBA
0005615	is_active_in extracellular space	IBA

Go ID	Value	Evidence
0008150	involved_in biological_process	ND
0007601	involved_in visual perception	IEA

Gene Loss events - NYX (2 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_MQ9FX3	Leptonychotes weddellii	Carnivora	Gene deletion	Full	No	10.1093/icb/icy004
GL_VMRP4G	Physeter catodon	Artiodactyla	Gene deletion	Full	No	10.1093/icb/icy004

Reference Gene

Summary

GeneOntology

Function (1)

Component (2)

Process (2)

Gene Loss events - NYX (2 results)