Gene: ELOVL5

Alternate names for this Gene: HELO1|SCA38|dJ483K16.1

Gene Summary: This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.1

Description of this Gene: ELOVL fatty acid elongase 5

Type of Gene: protein-coding

rs209489 in ELOVL5 gene and Adenocarcinoma of large intestine PMID 26586795 2016 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.

rs209489 in ELOVL5 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 26586795 2016 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.

rs209489 in ELOVL5 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 26586795 2016 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.

rs209489 in ELOVL5 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 26586795 2016 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.

rs209489 in ELOVL5 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 26586795 2016 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.

rs209489 in ELOVL5 gene and Colorectal Carcinoma PMID 26586795 2016 Among individuals with distant-metastatic CRC, several SNPs at 6p12.1, nearest the ELOVL5 gene, were statistically significantly associated with poorer survival, with the strongest associations noted for rs209489 [hazard ratio (HR) = 1.8, P = 7.6×10(-10) and HR = 1.8, P = 3.7×10(-9) for CRC-specific and overall survival, respectively).

rs209489 in ELOVL5 gene and Colorectal Neoplasms PMID 26586795 2016 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.

rs209489 in ELOVL5 gene and Malignant neoplasm of large intestine PMID 26586795 2016 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.

rs209489 in ELOVL5 gene and Malignant tumor of colon PMID 26586795 2016 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.

rs587777670 in ELOVL5 gene and Spinocerebellar ataxia type 38 PMID 25065913 2014 ELOVL5 mutations cause spinocerebellar ataxia 38.