Gene Locus : human-TMEM53
Mode of mutation : Natural mutant
Disease : Craniotubular dysplasia, Ikegawa type (CTDI)
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
3-bp deletion (c.62-5_62-3delTTC, NM_024587.4) in intron 1 of the TMEM53 gene. RT-PCR analysis in family B revealed an extra-short band, corresponding to a T.3 transcript with skipping of exon 2, causing a frameshift resulting in a premature termination codon (Asn22AlafsTer7) and a protein lacking the transmembrane domain
| Title : Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling - Guo_2021_Nat.Commun_12_2046 |
| Author(s) : Guo L , Iida A , Bhavani GS , Gowrishankar K , Wang Z , Xue JY , Wang J , Miyake N , Matsumoto N , Hasegawa T , Iizuka Y , Matsuda M , Nakashima T , Takechi M , Iseki S , Yambe S , Nishimura G , Koseki H , Shukunami C , Girisha KM , Ikegawa S |
| Ref : Nat Commun , 12 :2046 , 2021 |
| PubMedID: 33824347 |
| Gene_locus related to this paper: human-TMEM53 |