Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein BCL3 in the (14;19) translocations found in a variety of B cell malignancies. The KIAA0391 gene product has been provisionally designated KIAA0391 pending further characterization.
Function:
Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/RG9MTD1, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends.
Subunit:
Interacts with MRPP1/TRMT10C and MRPP2/HSD17B10.
Subcellular Location:
Mitochondrion.
SWISS:
O15091
Gene ID:
6992
Database links:
Entrez Gene: 9692 Human
Omim: 609947 Human
SwissProt: O15091 Human
Unigene: 458487 Human
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