SCD5 Chromosome 4

Stearoyl-CoA desaturase 5
1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in SCD5.

What This Gene Does
Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"Fatty acid desaturases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
4q21.22
Ensembl
ENSG00000145284
Associated Conditions (2)
Hearing loss
autosomal dominant 79
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS192654796 Health Risk Pathogenic Hearing loss, autosomal dominant 79, Hearing loss
Sign Up to Analyze Your DNA Log In