background:
BRP44L, also known as HSPC040 or CGI-129, is a 109 amino acid mitochondrial protein belonging to the UPF0041 family. The gene that encodes BRP44L maps to human chromosome 6. Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6.
Function:
Mediates the uptake of pyruvate into mitochondria.
Subunit:
The functional 150 kDa pyruvate import complex is a heteromer of MPC1 and MPC2 (By similarity).
Subcellular Location:
Mitochondrion inner membrane; Multi-pass membrane protein.
DISEASE:
Defects in MPC1 are the cause of mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741]. An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy.
Similarity:
Belongs to the mitochondrial pyruvate carrier (MPC) family.
Database links:
UniProtKB/Swiss-Prot: Q9Y5U8.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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