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Rabbit Anti-KCNE1L/FITC Conjugated antibody
background:
KCNE1L belongs to the potassium channel KCNE family which represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume.
Subcellular Location:
Plasma membrane; Single-pass type I membrane protein.
Tissue Specificity:
Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.
DISEASE:
Defects in KCNE1L are involved in Alport syndrome with mental retardation midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]. A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, deafness, mental retardation, midface hypoplasia and elliptocytosis.
Similarity:
Belongs to the potassium channel KCNE family.
Database links:
Entrez Gene: 23630 Human
Omim: 300328 Human
SwissProt: Q9UJ90 Human
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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