Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
RDH8 retinol dehydrogenase 8	PRRDH , SDR28C2	Homo sapiens	6	protein-coding		1.1.1.300	608575

Summary

This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014]

GeneOntology

Function (1)

Go ID	Value	Evidence
0004745	enables all-trans-retinol dehydrogenase (NAD+) activity	IBA

Component (2)

Go ID	Value	Evidence
0005829	is_active_in cytosol	IBA
0005886	located_in plasma membrane	TAS

Process (4)

Go ID	Value	Evidence
0006703	involved_in estrogen biosynthetic process	IEA
0042572	involved_in retinol metabolic process	IBA
0006694	involved_in steroid biosynthetic process	TAS
0007601	involved_in visual perception	IEA

Gene Loss events - RDH8 (2 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_GRJKDJ	Condylura cristata	Eulipotyphla	Gene deletion	Full	No	10.1093/icb/icy004
GL_KETYGU	Nannospalax galili	Rodentia	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004