 |
EBP |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- EBP (HGNC:3133) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- EBP cholestenol delta-isomerase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CDPX2
- Alias symbols
- CPX, CPXD, CHO2
- %HI
- 58.58(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.94(Read more about gnomAD pLI score)
- LOEUF
- 0.34(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.23
- Genomic Coordinates
-
GRCh37/hg19: chrX:48380196-48387104 NCBI Ensembl UCSC GRCh38/hg38: chrX:48521808-48528716 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006579.3 ENST00000495186.6 (Read more about MANE Select)
- Function
- Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- X-linked dominant chondrodysplasia punctata Monarch
-
PUBMED:
11038443
Ikegawa et al (2000) screened for EBP mutations in five sporadic female patient with X-linked dominant Chondrodysplasia punctate using PCR amplification of coding and flanking regions of EBP followed by sequencing analysis. All five patients have EBP mutations including 3 nonsense mutations and 2 missense mutations. Functional studies showed abnormal sterol profile in the individuals with nonsense mutation consistent with a defect in EBP (delta8-delta7-sterol isomerase) function.
-
PUBMED:
12509714
Herman et al (2002) detected EBP mutations in 22 out of 26 females with clinical diagnosis of X-linked dominant Chondrodysplasia punctate using PCR amplification of coding and flanking regions of EBP followed by sequencing. Functional studies (delta8-delta7-sterol isomerase level) were performed in 20 mutation positive patients and all showed abnormal profile. Among the mutations tested, 6 are nonsense and 3 are frameshift mutations which are expected to produce functional null alleles. Eight of the patients with expected null allele has no family history.
-
PUBMED:
10942423
Has et al (2000) screened EBP mutations in seven independent families with X-linked dominant Chondrodysplasia punctate using direct sequencing and restriction enzyme analysis. Three nonsense, two frame shift, on deletion in exon 4 and one insertion in exon 5 were detected. At least three families in this study showed 3-4 observed segregations.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
