AHDC1

AHDC1
Identifiers
AliasesAHDC1, MRD25, AT-hook DNA binding motif containing 1, XIGIS
External IDsOMIM: 615790; MGI: 2444218; HomoloGene: 17144; GeneCards: AHDC1; OMA:AHDC1 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 4: 132.74 – 132.81 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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