Gene: BCAP31

Alternate names for this Gene: 6C6-AG|BAP31|CDM|DDCH|DXS1357E

Gene Summary: This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: B cell receptor associated protein 31

Type of Gene: protein-coding

Gene: ABCD1

Alternate names for this Gene: ABC42|ALD|ALDP|AMN

Gene Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: ATP binding cassette subfamily D member 1

Type of Gene: protein-coding

rs128624217 in BCAP31;ABCD1 gene and Adrenoleukodystrophy PMID 11248239 2001 Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.

PMID 10737980 2000 Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.

PMID 7581394 1995 Mutational analysis of patients with X-linked adrenoleukodystrophy.

PMID 7849723 1994 Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

PMID 10480364 1999 X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.

PMID 23651979 2013 Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.

PMID 15643618 2005 Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

PMID 11438993 2001 Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

PMID 8566952 1996 Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

PMID 7825602 1995 Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

PMID 21889498 2011 Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.

PMID 7904210 1993 Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

PMID 26686776 2016 Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

PMID 10551832 1999 Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.

PMID 21700483 2012 X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

PMID 22071894 2012 Clinical utility gene card for: adrenoleukodystrophy.

PMID 10369742 1999 Two novel missense mutations causing adrenoleukodystrophy in Italian patients.

PMID 11810273 2001 Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.

PMID 7717396 1995 Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.

PMID 8040304 1994 Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

PMID 17542813 2007 Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.

PMID 26454440 2015 Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.

PMID 11336405 2001 Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.

PMID 11748843 2001 ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

PMID 11102997 2000 A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective.

PMID 16415970 2006 The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).

PMID 10190819 1999 Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.

PMID 15811009 2005 X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.

PMID 11798073 2001 Molecular diagnostics in China.

PMID 16087056 2005 ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.

PMID 15800013 2005 Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.