Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The CYB5RL gene product has been provisionally designated CYB5RL pending further characterization.
Function:
NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
Similarity:
Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
Contains 1 FAD-binding FR-type domain.
SWISS:
Q6IPT4
Gene ID:
606495
Database links:
Entrez Gene: 606495 Human
Entrez Gene: 230582 Mouse
SwissProt: Q6IPT4 Human
SwissProt: B1AS42 Mouse
Unigene: 591426 Human
Unigene: 4928 Mouse
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