Gene: EFNB1

Alternate names for this Gene: CFND|CFNS|EFB1|EFL3|EPLG2|Elk-L|LERK2

Gene Summary: The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system.

Gene is located in Chromosome: X

Location in Chromosome : Xq13.1

Description of this Gene: ephrin B1

Type of Gene: protein-coding

rs104894796 in EFNB1 gene and Craniofrontonasal dysplasia PMID 15166289 2004 Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

PMID 15959873 2005 Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

PMID 15124102 2004 Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

rs1556105875 in EFNB1 gene and Multiple congenital anomalies PMID 15166289 2004 Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

PMID 15363810 2004 Eph/ephrin signaling in morphogenesis, neural development and plasticity.

PMID 8669441 1996 Craniofrontonasal syndrome: study of 41 patients.

PMID 24281372 2014 Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

PMID 25486017 2015 Report of a family with craniofrontonasal syndrome.

PMID 26180728 2015 Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.

PMID 28140668 2018 A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.

PMID 23335590 2013 Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

PMID 16143553 2006 Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.

PMID 16685650 2006 The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

PMID 15124102 2004 Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

PMID 15959873 2005 Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).