Gene: NUMBL

Alternate names for this Gene: CAG3A|CTG3a|NBL|NUMB-R|NUMBLIKE|NUMBR|TNRC23

Gene Summary:

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: NUMB like endocytic adaptor protein

Type of Gene: protein-coding

Gene: COQ8B

Alternate names for this Gene: ADCK4|NPHS9

Gene Summary: This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: coenzyme Q8B

Type of Gene: protein-coding

rs1057519347 in NUMBL;COQ8B gene and NEPHROTIC SYNDROME, TYPE 9 PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.