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- Table of Contents
7 Citations 17 Q&As
Facts about Nephrin.
May anchor the podocyte slit diaphragm into the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).
Human | |
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Gene Name: | NPHS1 |
Uniprot: | O60500 |
Entrez: | 4868 |
Belongs to: |
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immunoglobulin superfamily |
CNF; Nephrin; nephrosis 1, congenital, Finnish type (nephrin); NPHNCNF; NPHS1; Renal glomerulus-specific cell adhesion receptor
Mass (kDA):
134.742 kDA
Human | |
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Location: | 19q13.12 |
Sequence: | 19; NC_000019.10 (35825372..35851993, complement) |
Specifically expressed in podocytes of kidney glomeruli.
Cell membrane; Single-pass type I membrane protein. Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.
PMID: 9660941 by Kestilae M., et al. Positionally cloned gene for a novel glomerular protein -- nephrin -- is mutated in congenital nephrotic syndrome.
PMID: 19309778 by Tikhomirov E., et al. Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type.
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