Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
CYP4V2 cytochrome P450 family 4 subfamily V member 2	BCD , CYP4AH1	Homo sapiens	11	protein-coding	CYP19A1 , CYP24A1 , CYP27C1 , CYP27B1 , CYP27A1 , CYP4F11 , CYP4F12 , CYP4F2 , CYP4F8 , CYP4F3 , CYP4F22 , CYP4A22 , CYP4A11 , CYP4Z1 , CYP4X1 , CYP4B1	1.14.14.79 , 1.14.14.80	608614

Summary

This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0020037	enables heme binding	IEA

Component (2)

Go ID	Value	Evidence
0005789	located_in endoplasmic reticulum membrane	IDA
0005789	located_in endoplasmic reticulum membrane	TAS

Process (4)

Go ID	Value	Evidence
0010430	involved_in fatty acid omega-oxidation	IDA
0001523	involved_in retinoid metabolic process	TAS
0016125	involved_in sterol metabolic process	TAS
0007601	involved_in visual perception	IEA

Gene Loss events - CYP4V2 (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_XLSU8I	Trichechus manatus	Sirenia	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004