SLC6A8 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SLC6A8 (HGNC:11055) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 6 member 8
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- CRTR, CT1, CRT, CRT-1, CRT1
- %HI
- 22.63(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.21(Read more about gnomAD LOEUF score)
- Cytoband
- Xq28
- Genomic Coordinates
-
GRCh37/hg19: chrX:152953381-152962048 NCBI Ensembl UCSC GRCh38/hg38: chrX:153687926-153696593 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005629.4 ENST00000253122.10 (Read more about MANE Select)
- Function
- Creatine:sodium symporter which mediates the uptake of creatine (PubMed:7953292, PubMed:7945388, PubMed:9882430, PubMed:17465020, PubMed:22644605, PubMed:25861866). Plays an important role in supplying creatine to the brain via the blood-brain barrier (By similarity). {ECO:0000250|UniProtKB:Q8VBW1, ECO:0000269|PubMed:17465020, ECO:0000269|PubMed:22644605, ECO:0000269|PubMed:25861866, ECO:0000269|PubMed:7945388, ECO:0000269|PubMed:7953292, ECO:0000269|PubMed:9882430}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- creatine transporter deficiency Monarch
-
PUBMED:
29478817
Joncquel-chevalier et al. (2018) did functional assessment of creatine transporter in 8 patients (4 males and 4 females) with splicing (N=3), small deletions (N=3) or missense variants (N=2) and equal number of controls, and proposed an easy, reliable and discriminative manner for exploring creatine transporter activity and disease variations.
-
PUBMED:
23644449
Van de Kamp et al. (2013) did a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic variant in the creatine transporter gene (SLC6A8). A third of patients had a de novo variant in the SLC6A8 gene. The spectrum of variants in these patients are missense (N=26/85 families), in-frame (N=20/85 families), frame shift (N=15/80 families), nonsense (11/85 families), splicing (9/85 families), and multi-exon deletions (4 unrelated patients). The authors propose that missense variants with residual activity might be associated with a milder phenotype, and large deletions extending beyond the 3' end of the SLC6A8 gene are typically associated with a more severe phenotype.
-
PUBMED:
23660394
Comeaux et al (2013) presented the biochemical and molecular testing results for 122 CCDS patients, with focus on 3 related genes: AGAT (N=20)and GAMT(N=33) for creatine biosynthesis disorders and SLC6A8 N=69, both males and females) for creatine transporter (CT1) deficiency. 26 patients (25 males and 1 female) were found to harbor deleterious mutations in the SLC6A8 gene, including nonsense, splicing, frameshift, partial/whole gene deletions.
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.