功能： disease:Defects in KAL1 are the cause of Kallmann syndrome type 1 (KAL1) [MIM:308700]; also known as hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous.,function:May be an adhesion-like molecule with anti-protease activity.,PTM:N-glycosylated.,similarity:Contains 1 WAP domain.,similarity:Contains 4 fibronectin type-III domains.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Peripheral membrane protein . Secreted . Proteolytic cleavage may release it from the cell surface into the extracellular space.
组织表达： Expressed in the cerebellum (at protein level).
功能： disease:Defects in KAL1 are the cause of Kallmann syndrome type 1 (KAL1) [MIM:308700]; also known as hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous.,function:May be an adhesion-like molecule with anti-protease activity.,PTM:N-glycosylated.,similarity:Contains 1 WAP domain.,similarity:Contains 4 fibronectin type-III domains.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Peripheral membrane protein . Secreted . Proteolytic cleavage may release it from the cell surface into the extracellular space.
组织表达： Expressed in the cerebellum (at protein level).
在线咨询
湘公网安备