The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology

被引：33

作者：

Triepels, R ^{[1
]}

Smeitink, J ^{[1
]}

Loeffen, J ^{[1
]}

Smeets, R ^{[1
]}

Buskens, C ^{[1
]}

Trubels, F ^{[1
]}

van den Heuvel, L ^{[1
]}

机构：

[1] Univ Childrens Hosp, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders, NL-6500 HB Nijmegen, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 02期

关键词：

D O I：

10.1023/A:1005402020569

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We present the cDNA sequence of the human mitochondrial acyl carrier protein NDUFAB1, a nuclear-encoded subunit of complex I of the mitochondrial respiratory chain. We obtained the NDUFAB1 cDNA using the cDNA sequence of the bovine mitochondrial acyl carrier protein. The human cDNA contains two putative translation initiation codons. The human NDUFAB1 protein contains a phosphopantetheine attachment site (DLGLDSLDQVEIIMAM), unique for acyl carrier proteins, and an EF-hand calcium binding domain (DIDAEKLMCPQEI). Transcripts of this gene are found in a wide range of human tissues. The highest expression levels were observed, in descending order, in adult heart, skeletal muscle and fetal heart. We subjected NDUFAB1 fibroblast cDNA of 20 patients with an isolated enzymatic complex I deficiency to mutational detection. No mutations in the NDUFAB1 open reading frame were observed. Future studies will answer whether mutations in the NDUFAB1 promoter or transcription elements are responsible for the observed complex I deficiency.

引用

页码：163 / 173

页数：11

共 47 条

[1] COMPLEMENTARY-DNA SEQUENCING - EXPRESSED SEQUENCE TAGS AND HUMAN GENOME PROJECT [J].