RMND1 gene

required for meiotic nuclear division 1 homolog

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

From UniProt:

Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853).

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 11

From UniProt:

Combined oxidative phosphorylation deficiency 11 (COXPD11): A severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures. [MIM:614922]

Cytogenetic Location: 6q25.1, which is the long (q) arm of chromosome 6 at position 25.1

Molecular Location: base pairs 151,404,548 to 151,452,181 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q25.1, which is the long (q) arm of chromosome 6 at position 25.1
  • bA351K16
  • bA351K16.3
  • C6orf96
  • COXPD11
  • RMD1