| Name |
|---|
CIMT GeneCarotid intimal medial thickness |
MSTO1 Genemisato 1, mitochondrial distribution and morphology regulator Involved in mitochondrion distribution; mitochondrion organization; and positive regulation of mitochondrial fusion. Located in mitochondrial outer membrane. Is active in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
HRM2 Genehair, curly |
ECTD5 GeneEctodermal dysplasia 5, hair/nail type |
ECTD7 GeneEctodermal dysplasia 7, hair/nail type |
ECTD6 GeneEctodermal dysplasia 6, hair/nail type |
ECTD8 GeneEctodermal dysplasia 8, hair/tooth/nail type |
SHEP8 GeneSkin/hair/eye pigmentation 8, freckling |
HCL2 Genehair color 2 (red) |
HCL1 Genehair color 1 (brown) |
HR Genehair growth associated This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] |