TMEM126A

TMEM126A
Identifiers
Aliases	TMEM126A, OPA7, transmembrane protein 126A
External IDs	OMIM: 612988; MGI: 1913521; HomoloGene: 11939; GeneCards: TMEM126A; OMA:TMEM126A - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	85,656,547 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	90,106,437 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; tibialis anterior muscle; ; deltoid muscle; ; right ventricle; ; quadriceps femoris muscle; ; vastus lateralis muscle; ; mucosa of ileum; ; biceps brachii; ; oocyte; ; Skeletal muscle tissue of biceps brachii;
	Top expressed in
	intercostal muscle; ; digastric muscle; ; sternocleidomastoid muscle; ; myocardium of ventricle; ; temporal muscle; ; triceps brachii muscle; ; interventricular septum; ; quadriceps femoris muscle; ; soleus muscle; ; cardiac muscle tissue of left ventricle;
	More reference expression data
	n/a
Gene ontology
Molecular function	molecular function;
Cellular component	integral component of membrane; mitochondrial inner membrane; mitochondrion; membrane;
Biological process	optic nerve development;
	Sources:Amigo / QuickGO
Orthologs
	84233
	66271
	ENSG00000171202
	ENSMUSG00000030615
	Q9H061
	Q9D8Y1
	NM_032273; NM_001244735
	NM_025460
	NP_001231664; NP_115649
	NP_079736
	Wikidata
View/Edit Human	View/Edit Mouse

Transmembrane protein 126A is a mitochondrial transmembrane protein of unknown function coded for by the TMEM126A gene.

A nonsense mutation in the TMEM126A gene has been shown to be related to optic atrophy. TMEM126A shows higher levels of expression in the parathyroid gland as well as in the peripheral blood cells of Huntington's disease patients, indicating that expression of this protein has some relation to blood regulation.

TMEM126A has two isoforms and is found on the long arm of Chromosome 11 in region 1, band 4, sub-band 1. It is produced by the TMEM126 gene, which codes for a mRNA 726 base pairs long. which translates into a protein 195 amino acids long. In addition, this gene is expressed 1.8 times the average of a normal gene and has expression with the prostate, uterus, kidney, placenta, heart, brain, and a large number of other tissues.