Gene: MCPH1

Alternate names for this Gene: BRIT1|MCT

Gene Summary: This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.1

Description of this Gene: microcephalin 1

Type of Gene: protein-coding

Gene: ANGPT2

Alternate names for this Gene: AGPT2|ANG2

Gene Summary: The protein encoded by this gene is an antagonist of angiopoietin 1 (Ang-1), and both (Ang-1 and Ang-2) are ligands for the endothelial tyrosine kinase receptor (Tie2). These two ligands affect angiogenesis during embryogenesis and tumorigenesis. The encoded protein disrupts the vascular remodeling ability of Ang-1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.1

Description of this Gene: angiopoietin 2

Type of Gene: protein-coding

rs2442604 in MCPH1;ANGPT2 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.