KIRREL1 Chromosome 1
Kirre like nephrin family adhesion molecule 1
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What This Gene Does
NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"C2-set domain containing|I-set domain containing"
Locus Type
gene with protein product
Location
1q23.1
Ensembl
ENSG00000183853
Associated Conditions (2)
Nephrotic syndrome
type 23
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139995772 | Health Risk | Pathogenic | Nephrotic syndrome, type 23, Nephrotic syndrome |
| RS764090370 | Health Risk | Pathogenic | Nephrotic syndrome, type 23, Nephrotic syndrome |