ATPAF2 gene

ATP synthase mitochondrial F1 complex assembly factor 2

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

From NCBI Gene:

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

From UniProt:

May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).

From NCBI Gene:

  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1

From UniProt:

Mitochondrial complex V deficiency, nuclear 1 (MC5DN1): A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. [MIM:604273]

Cytogenetic Location: 17p11.2, which is the short (p) arm of chromosome 17 at position 11.2

Molecular Location: base pairs 18,015,059 to 18,039,169 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p11.2, which is the short (p) arm of chromosome 17 at position 11.2
  • ATP12
  • ATP12p
  • LP3663
  • MC5DN1