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.