AHDC1

Transcription factor Gibbin is a protein that in humans is encoded by the AHDC1 ( AT-hook DNA binding motif containing 1) gene.^[5] Mutation in the gene cause Xia-Gibbs Syndrome,^[6][7] whose symptoms include developmental delay, global hypotonia, obstructive sleep apnoea and seizures.

AHDC1
Identifiers
Aliases	AHDC1, MRD25, AT-hook DNA binding motif containing 1, XIGIS
External IDs	OMIM: 615790; MGI: 2444218; HomoloGene: 17144; GeneCards: AHDC1; OMA:AHDC1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.11-p35.3 Start 27,534,035 bp[1] End 27,604,431 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D2.3 Start 132,738,571 bp[2] End 132,805,421 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in paraflocculus of cerebellum Brodmann area 10 frontal pole sural nerve middle frontal gyrus gastric mucosa popliteal artery tibial arteries muscle of thigh right hemisphere of cerebellum Top expressed in zygote secondary oocyte primary visual cortex spermatocyte neural layer of retina superior frontal gyrus yolk sac epiblast primary oocyte seminiferous tubule More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 27245 230793 Ensembl ENSG00000126705 ENSMUSG00000037692 UniProt Q5TGY3 Q6PAL7 RefSeq (mRNA) NM_001029882 NM_001371928 NM_146155 RefSeq (protein) NP_001025053 NP_001358857 NP_666267 NP_001391059 NP_001391060 NP_001391061 NP_001391062 Location (UCSC) Chr 1: 27.53 – 27.6 Mb Chr 4: 132.74 – 132.81 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

In 2014, a human genetic disorder (Xia-Gibbs Syndrome) caused by de novo mutations in AHDC1 was discovered through whole-exome sequencing.^[8] Four patients were identified in the paper which recorded the initial discovery and their clinical features were reported, including global developmental delay, hypotonia, obstructive sleep apnea, intellectual disability and seizures. The publication of the paper and discovery of the new condition was reported in the media including in Science Daily and in Baylor College of Medicine News.^[9][10][11] Subsequent research has identified and reported the clinical features of an additional seven patients and there are now known to be twenty confirmed cases.^[12]