Literature associating ABCB6 and autosomal recessive osteopetrosis 7
ATP-binding cassette sub-family B member 6, mitochondrial; Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis; Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
Synonyms: ABCB6, ABCB6p, hABCB6, A0A024R436, H7C1R6 ...