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Rabbit Anti-LRRC52 antibody
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.
Function:
Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium. KCNU1 channel auxiliary protein. May modulate KCNU1 gating properties.
Subunit:
May interact with KCNU1; this interaction may be required for LRRC52 stability and may change the channel gating properties By similarity. Interacts with KCNMA1.
Subcellular Location:
Membrane.
Tissue Specificity:
Mainly expressed in testis and skeletal muscle.
Similarity:
Contains 5 LRR (leucine-rich) repeats.
Contains 1 LRRCT domain.
Contains 1 LRRNT domain.
SWISS:
Q8N7C0
Gene ID:
88699
Database links:
Entrez Gene: 88699 Human
Entrez Gene: 289199 Rat
SwissProt: Q8N7C0 Human
SwissProt: A0JN28 Rat
Unigene: 664975 Human
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