KIRREL1 Chromosome 1

Kirre like nephrin family adhesion molecule 1

2 variants 2 Health Risk

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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

RS139995772

Pathogenic

Nephrotic syndrome, type 23, Nephrotic syndrome

Health Risk

RS764090370

Pathogenic

Nephrotic syndrome, type 23, Nephrotic syndrome

Health Risk

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