KLHL15 Chromosome X

Kelch like family member 15

3 variants 3 Health Risk

Upload your DNA to see your personal genotypes for variants in KLHL15.

What This Gene Does

This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]

Gene Info

Gene Group

"Kelch like|BTB domain containing"

Locus Type

gene with protein product

Location

Xp22.11

Ensembl

ENSG00000174010

Associated Conditions (3)

Abnormal brain morphology

Intellectual disability

X-linked 103

Key Variants

RS758506007

Conflicting classifications of pathogenicity

Health Risk

RS1060499748

Likely pathogenic

Abnormal brain morphology, Abnormal brain morphology

Health Risk

RS1929024034

Pathogenic

Intellectual disability, X-linked 103, Intellectual disability

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS758506007	Health Risk	Conflicting classifications of pathogenicity	—
RS1060499748	Health Risk	Likely pathogenic	Abnormal brain morphology, Abnormal brain morphology
RS1929024034	Health Risk	Pathogenic	Intellectual disability, X-linked 103, Intellectual disability