RecName: Full=Mitochondrial import receptor subunit TOM7 homolog; AltN - Protein

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Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant. [J Clin Invest. 2022]
Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.
Garg A, Keng WT, Chen Z, Sathe AA, Xing C, Kailasam PD, Shao Y, Lesner NP, Llamas CB, Agarwal AK, et al. J Clin Invest. 2022 Dec 1; 132(23). Epub 2022 Dec 1.
Cloning and characterization of the human novel gene encoding 6.2 kDa protein highly expressed upon ultraviolet irradiation in DNA-PK-deleted human glioma M059J cells. [DNA Seq. 1999]
Cloning and characterization of the human novel gene encoding 6.2 kDa protein highly expressed upon ultraviolet irradiation in DNA-PK-deleted human glioma M059J cells.
Lee JS. DNA Seq. 1999; 10(3):195-8.
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay. [HGG Adv. 2023]
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
Young C, Batkovskyte D, Kitamura M, Shvedova M, Mihara Y, Akiba J, Zhou W, Hammarsjö A, Nishimura G, Yatsuga S, et al. HGG Adv. 2023 Jan 12; 4(1):100148. Epub 2022 Oct 4.

RefSeq protein
See the reference protein sequence for mitochondrial import receptor subunit TOM7 homolog (NP_061932.1).

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Q9P0U1 [Domain Mapping of Disease Mut...]
Q9P0U1
Domain Mapping of Disease Mutations
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RecName: Full=Mitochondrial import receptor subunit TOM7 homolog; AltName: Full=...
RecName: Full=Mitochondrial import receptor subunit TOM7 homolog; AltName: Full=Translocase of outer membrane 7 kDa subunit homolog
gi|12643829|sp|Q9P0U1.1|TOM7_HUMAN

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