Early Detection Research Network

OPA1

Aliases:
This biomarker is also known as:
  • optic atrophy 1 (autosomal dominant),
  • NTG,
  • OPA1,
  • BERHS,
  • optic atrophy protein 1,
  • KIAA0567,
  • MTDPS14,
  • dynamin-like 120 kDa protein, mitochondrial,
  • mitochondrial dynamin-like 120 kDa protein,
  • NPG,
  • Optic atrophy protein 1,
  • FLJ12460,
  • largeG,
  • MGM1,
  • dynamin-like guanosine triphosphatase,
  • mitochondrial dynamin-like GTPase,

Description…

From NCBI Gene: 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. [provided by RefSeq, Aug 2017]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Gene
HGNC Name: OPA1

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

Version 5.0.2