追加情報This antibody gave a positive result in ELISA against the immunizing peptide (ab37538).
Not yet tested in other applications.
機能May act as a transcription factor that could act on to regulate one of the phases of hair growth.
組織特異性Strongest expression of isoforms 1 and 2 is seen in the small intestine, weaker expression in brain and colon, and trace expression is found in liver, pancreas, spleen, thymus, stomach, salivary gland, appendix and trachea. Isoform 1 is always the most abundant. Isoform 1 is exclusively expressed at low levels in kidney and testis. Isoform 2 is exclusively expressed at high levels in the skin.
関連疾患Defects in HR are the cause of alopecia universalis congenita (ALUNC) [MIM:203655]. ALUNC is a rare autosomal recessive form of hair loss characterized by hair follicles without hair. Defects in HR are the cause of atrichia with papular lesions (APL) [MIM:209500]; also known as congenital atrichia. APL is an autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair. Defects in HR are the cause of hypotrichosis Marie Unna type 1 (MUHH1) [MIM:146550]. An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood.
Malloy PJ et al. Modulation of vitamin d receptor activity by the corepressor hairless: differential effects of hairless isoforms. Endocrinology150:4950-7 (2009).
Human, African green monkey
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