Gene: NACC1

Alternate names for this Gene: BEND8|BTBD14B|BTBD30|NAC-1|NAC1|NECFM

Gene Summary: This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: nucleus accumbens associated 1

Type of Gene: protein-coding

rs1060505041 in NACC1 gene and Muscle hypotonia PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 28132692 2017 A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

rs1060505041 in NACC1 gene and NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION PMID 28132692 2017 A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.