Literature summary for 2.7.7.72 extracted from

Liwak-Muir, U.; Mamady, H.; Naas, T.; Wylie, Q.; McBride, S.; Lines, M.; Michaud, J.; Baird, S.D.; Chakraborty, P.K.; Holcik, M.
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts (2016), Orphanet J. Rare Dis., 11, 79.

Search for more literature for 2.7.7.72

Application

Application	Comment	Organism
medicine	congenital sideroblastic anemia causing mutations in patient-derived fibroblasts do not affect subcellular localization of TRNT1 and show no gross morphological differences when compared to control cells. Both basal and maximal respiration rates are decreased in patient cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
L166S	and T154I, compound heterozygous mutation identified in a patient with sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	Homo sapiens
R190I	homozygous mutation identified in a patient with sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	Homo sapiens
T154I	and L166S, compound heterozygous mutation identified in a patient with sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q96Q11	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)