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 :
homozygosity for a 4-bp insertion (c.222_223insCATG, NM_024587.4) in exon 3 of the TMEM53 gene, affecting transcripts T.1 and T.2. The insertion causes a frameshift predicted to result in a premature termination codon, Val75HisfsTer26 in T.1 and Val2HisfsTer26 in T.2, with both proteins lacking the transmembrane domain. The unaffected first-cousin parents were heterozygous for the insertion, which was not found in the ExAC or gnomAD databases. Immunocytochemistry in MG63 cells indicated that the T.1 Val75HisfsTer26 mutant failed to target the nuclear envelope, where the normal isoforms were localized. The T.2 Val2HisfsTer26 mutant was expressed as mRNA, but not on the protein level.
| 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 |