Gene: ZNF630

Alternate names for this Gene: dJ54B20.2

Gene Summary: This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disability. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.23

Description of this Gene: zinc finger protein 630

Type of Gene: protein-coding

rs12387999 in ZNF630 gene and Common Variable Immunodeficiency PMID 21497890 2011 Genome-wide association identifies diverse causes of common variable immunodeficiency.

rs142513793 in ZNF630 gene and Tuberculosis PMID 24057671 2014 Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.