Literature summary for 4.98.1.1 extracted from

Cobbold, C.; Roberts, A.; Badminton, M.
Erythropoietic protoporphyria: a functional analysis of the leader sequence of human ferrochelatase (2006), Mol. Genet. Metab., 89, 227-232.

Search for more literature for 4.98.1.1

Application

Application	Comment	Organism
medicine	role in erythropoietic protoporphyria, deficiency of ferrochelatase	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
into the eukaryotic expression plasmid pEYFP-N1, HeLa cells transiently transfected with YFP-tagged, wild-type FECH	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
P62R	mutated full-length ferrochelatase, identified in a patient with erythropoietic protoporphyria, successfully targets to mitochondria and does not inhibit cleavage of the mature protein from the leader peptide	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	active mature protein, 62 amino acid leader sequence is sufficient for targeting of a leader sequence-YFP fusion protein to mitochondria, but does not allow cleavage from YFP	Homo sapiens	5739	-
ribosome	preprotein with a cleavable presequence at its amino-terminus	Homo sapiens	5840	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Purification (Commentary)

Purification (Comment)	Organism
by gel filtration	Homo sapiens

Synonyms

Synonyms	Comment	Organism
FeCH	-	Homo sapiens

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Release 2023.1 (January 2023)