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ABCD1 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ABCD1 (HGNC:61) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ATP binding cassette subfamily D member 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ALD
- Alias symbols
- AMN, ALDP, adrenoleukodystrophy
- %HI
- 59.98(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.15(Read more about gnomAD LOEUF score)
- Cytoband
- Xq28
- Genomic Coordinates
-
GRCh37/hg19: chrX:152990311-153010209 NCBI Ensembl UCSC GRCh38/hg38: chrX:153724856-153744755 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000033.4 ENST00000218104.6 (Read more about MANE Select)
- Function
- ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)- CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502, PubMed:21145416, PubMed:23671276, PubMed:29397936, PubMed:33500543). Coupled to the ATP- dependent transporter activity has also a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP- dependent transport into p... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- adrenoleukodystrophy Monarch
-
PUBMED:
8040304
Fanen et al. (1994) used denaturing gradient gel electrophoresis to analyze exons 6 and 8, which encode the ATP binding domain, in 50 affected ALD patients. Three patients were identified with single or two base pair deletions (1937delC, 2177delTA, 2204delG) that result in a frameshift and are predicted to result in premature termination. The study also identified a patient with a nonsense variant (R464X).
-
PUBMED:
23835273
Hung et al. (2013) performed sequencing analysis on 4 families with X linked adrenoleukodystrophy. Proband ADL-1 was found to have c.1272g>a splice donor site variant that was predicted to result in the activation of a cryptic splice site in exon 4 and resultin in a truncated ABCD1 (p.Val425fs*92)
-
PUBMED:
25835712
Kallabi et al. (2015) described a Tunisian male with X-ALD identified a de novo splice site variant c.1780+2T>G predicted to activate a new splice donor site leading to a frameshift and premature stop.
-
PUBMED:
7825602
Ligtenberg et al. (1995) performed sequencing analysis on 28 independent kindreds with X-linked adrenoleukodystrophy. In the analysis 4 nonsense, 5 frameshifts and 2 splice variants were identified.
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.
