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OPA1

The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness.
Protein class

Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Transporters

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Cardiomyocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Oligomeric complex consisting of membrane-bound and soluble forms of OPA1. Interacts with RCC1L; this interaction is direct (PubMed:28746876). Interacts with CHCHD3 and IMMT; these interactions occur preferentially with soluble OPA1 forms (PubMed:21081504). Binds PARL (By similarity). Interacts with PRELID1 (PubMed:21364629).

Molecular function

Hydrolase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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