COLEC10 Chromosome 8

Collectin subfamily member 10

4 variants 4 Health Risk

Upload your DNA to see your personal genotypes for variants in COLEC10.

What This Gene Does

This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

"Collectins|C-type lectin domain containing|Complement system activation components"

Locus Type

gene with protein product

Location

8q24.12

Ensembl

ENSG00000184374

Associated Conditions (3)

3MC syndrome 3

See cases

COLEC10-related disorder

Key Variants

RS1060505022

Pathogenic

3MC syndrome 3, 3MC syndrome 3

Health Risk

RS149010496

Pathogenic

3MC syndrome 3, See cases, COLEC10-related disorder

Health Risk

RS749987061

Pathogenic

3MC syndrome 3, 3MC syndrome 3

Health Risk

RS773764995

Pathogenic

3MC syndrome 3, 3MC syndrome 3

Health Risk

All Variants (4)

RSID	Category	Clinical Significance	Conditions
RS1060505022	Health Risk	Pathogenic	3MC syndrome 3, 3MC syndrome 3
RS149010496	Health Risk	Pathogenic	3MC syndrome 3, See cases, COLEC10-related disorder
RS749987061	Health Risk	Pathogenic	3MC syndrome 3, 3MC syndrome 3
RS773764995	Health Risk	Pathogenic	3MC syndrome 3, 3MC syndrome 3