功能： disease:Defects in PVRL1 are the cause of ectodermal dysplasia Margarita Island type (EDMI) [MIM:225060]; also known as Zlotogora-Ogur syndrome, cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) or ectodermal dysplasia 4. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDMI is an autosomal recessive syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails.,disease:Defects in PVRL1 are the cause of non-syndromic orofacial cleft type 7 (OFC7) [MIM:225060]. Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.,function:Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between PVRL1/nectin-1 and PVRL3/nectin-3 and between PVRL1/nectin-1 and PVRL4/nectin-4.,similarity:Belongs to the nectin family.,similarity:Contains 1 Ig-like V-type (immunoglobulin-like) domain.,similarity:Contains 2 Ig-like C2-type (immunoglobulin-like) domains.,subunit:Can form trans-heterodimers with PVRL3/nectin-3 and with PVRL4/nectin-4. Interacts (via C-terminus) with afadin (via PDZ domain); this interaction recruits PVRL1 to cadherin-based adherens junctions. Interacts with integrin alphaV/beta3. Interacts with herpes simplex virus 1 and 2, and pseudorabies virus glycoprotein gD and act as a receptor for these viruses.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform Alpha]: Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, presynaptic cell membrane .; [Isoform Delta]: Cell membrane; Single-pass type I membrane protein.; [Isoform Gamma]: Secreted.
功能： disease:Defects in PVRL1 are the cause of ectodermal dysplasia Margarita Island type (EDMI) [MIM:225060]; also known as Zlotogora-Ogur syndrome, cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) or ectodermal dysplasia 4. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDMI is an autosomal recessive syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails.,disease:Defects in PVRL1 are the cause of non-syndromic orofacial cleft type 7 (OFC7) [MIM:225060]. Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.,function:Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between PVRL1/nectin-1 and PVRL3/nectin-3 and between PVRL1/nectin-1 and PVRL4/nectin-4.,similarity:Belongs to the nectin family.,similarity:Contains 1 Ig-like V-type (immunoglobulin-like) domain.,similarity:Contains 2 Ig-like C2-type (immunoglobulin-like) domains.,subunit:Can form trans-heterodimers with PVRL3/nectin-3 and with PVRL4/nectin-4. Interacts (via C-terminus) with afadin (via PDZ domain); this interaction recruits PVRL1 to cadherin-based adherens junctions. Interacts with integrin alphaV/beta3. Interacts with herpes simplex virus 1 and 2, and pseudorabies virus glycoprotein gD and act as a receptor for these viruses.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform Alpha]: Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, presynaptic cell membrane .; [Isoform Delta]: Cell membrane; Single-pass type I membrane protein.; [Isoform Gamma]: Secreted.
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