SCEL Chromosome 13
Sciellin
Upload your DNA to see your personal genotypes for variants in SCEL.
What This Gene Does
The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
LIM domain containing
Locus Type
gene with protein product
Location
13q22.3
Ensembl
ENSG00000136155
Associated Conditions (1)
Moyamoya angiopathy
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS34794176 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |