功能： disease:Defects in HOXA2 are a cause of microtia hearing impairment and cleft palate [MIM:612290]. Microtia is a congenital deformity of the outer ear and occurs in approximately one in 8'000-10'000 births. It is characterized by a small, abnormally shaped outer ear. It can be unilateral or bilateral. Syndromic forms of microtia occur in conjunction with other abnormalities. The most common associated malformations is the cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. Defects in HOXA2 are a cause of autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment and partial cleft palate.,function:Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.,similarity:Belongs to the Antp homeobox family. Proboscipedia subfamily.,similarity:Contains 1 homeobox DNA-binding domain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus.
科研货号： PLA005945
HXA2 Polyclonal Antibody
Catalog NoPLA005945
Product information
基因名称： HOXA2 HOX1K
蛋白名称： Homeobox protein Hox-A2 (Homeobox protein Hox-1K)
功能： disease:Defects in HOXA2 are a cause of microtia hearing impairment and cleft palate [MIM:612290]. Microtia is a congenital deformity of the outer ear and occurs in approximately one in 8'000-10'000 births. It is characterized by a small, abnormally shaped outer ear. It can be unilateral or bilateral. Syndromic forms of microtia occur in conjunction with other abnormalities. The most common associated malformations is the cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. Defects in HOXA2 are a cause of autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment and partial cleft palate.,function:Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.,similarity:Belongs to the Antp homeobox family. Proboscipedia subfamily.,similarity:Contains 1 homeobox DNA-binding domain.,
在线咨询
湘公网安备