Gene: AHDC1

Alternate names for this Gene: MRD25|XIGIS

Gene Summary: This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.11-p35.3

Description of this Gene: AT-hook DNA binding motif containing 1

Type of Gene: protein-coding

rs587779768 in AHDC1 gene and AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome PMID 24791903 2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

rs587779766 in AHDC1 gene and Delayed speech and language development PMID 24791903 2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

rs4908343 in AHDC1 gene and Esophageal Neoplasms PMID 20729853 2010 Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.

rs587779766 in AHDC1 gene and Global developmental delay PMID 24791903 2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

rs587779766 in AHDC1 gene and Neonatal Hypotonia PMID 24791903 2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

rs587779766 in AHDC1 gene and Poor school performance PMID 24791903 2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

rs587779766 in AHDC1 gene and Sleep Apnea Syndromes PMID 24791903 2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.