Property Summary

NCBI Gene PubMed Count 18
PubMed Score 17.76
PubTator Score 13.14

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
astrocytic glioma 1.100 0.009
oligodendroglioma 1.100 0.011
breast carcinoma 1.200 0.012

Synonym

Accession O14678 A8K5L7 Q6IAQ0 Q96E75
Symbols P70R
P79R
ABC41
MAHCJ
PMP69
PXMP1L
EST352188

Gene

PANTHER Protein Class (1)

Gene RIF (6)

PMID Text
25535791 Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC.
22922874 mutations altering the putative ATPase domain of ABCD4 affect its function, suggesting that the ATPase activity of ABCD4 may be involved in intracellular processing of vitamin B12.
21514256 Defects in ABCB4 have been found to cause progressive familial intrahepatic cholestasis type 3.
20661612 Observational study of gene-disease association. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)
15800013 expression tends to be correlated with the severity of X-linked adrenoleukodystrophy

AA Sequence

MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQVGLIPSQYYGV      1 - 70
LGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDID     71 - 140
NPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKTLMGPIVM    141 - 210
KLVHQEKLEGDFRFKHMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYL    211 - 280
GSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRET    281 - 350
LLDMSLKSQDCEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLIT    351 - 420
GNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADD    421 - 490
ERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVLDEATSALTEEVES    491 - 560
ELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWELMRIKVE                            561 - 606
//

Text Mined References (19)

PMID Year Title
25535791 Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.
22922874 2012 Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
21514256 2011 Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.
20661612 2011 Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15909363 2005 Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34.
15800013 2005 Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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