CYP2U1 deficiency

Synonym(s)
- Autosomal recessive spastic paraplegia type 56
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CYP2U1 / Cytochrome P450 Family 2 Subfamily U Member 1
  4q25
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cytochrome P450 2U1
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism