Mitochondrial porphyrin transporter deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- ABCB6 / ATP Binding Cassette Subfamily B Member 6
  2q35
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial ABC transporter ABCB6
Disease group(s)
- 17.1 Disorders of heme synthesis and porphyrias
Child entries