Human Gene ATPAF2 (ENST00000474627.8) Description and Page Index

Description: Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2 (ATPAF2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_145691)
Gencode Transcript: ENST00000474627.8
Gencode Gene: ENSG00000171953.16
Transcript (Including UTRs)
Position: hg38 chr17:18,018,021-18,039,168 Size: 21,148 Total Exon Count: 8 Strand: -
Coding Region
Position: hg38 chr17:18,018,549-18,039,013 Size: 20,465 Coding Exon Count: 8

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

Comments and Description Text from UniProtKB


	ID: ATPF2_HUMAN DESCRIPTION: RecName: Full=ATP synthase mitochondrial F1 complex assembly factor 2; AltName: Full=ATP12 homolog; Flags: Precursor; FUNCTION: May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). SUBUNIT: Interacts with ATP5A1. SUBCELLULAR LOCATION: Mitochondrion (Probable). TISSUE SPECIFICITY: Widely expressed. DISEASE: Defects in ATPAF2 are a cause of mitochondrial complex V deficiency nuclear type 1 (MC5DN1) [MIM:604273]. 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. SIMILARITY: Belongs to the ATP12 family. SEQUENCE CAUTION: Sequence=AAP34466.1; Type=Frameshift; Positions=87;