ABCD4 Gene
ATP Binding Cassette Subfamily D Member 4
Gene Information Card
| Symbol | ABCD4 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily D Member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 5826 ncbi.nlm.nih.gov/gene/5826 |
| Ensembl ID | ENSG00000119688 |
| UniProt ID | O14678 |
| OMIM ID | 603214 |
| HGNC ID | 68 |
| Aliases | P70R, ABC41, PMP69, EST352188 |
Description
The ABCD4 gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily, specifically subfamily D. This peroxisomal membrane protein is involved in the transport of cobalamin (vitamin B12) into the cytosol, playing a critical role in the conversion of dietary cobalamin to its active coenzyme forms. Mutations in ABCD4 cause methylmalonic aciduria and homocystinuria type cblJ (MMAHC), a disorder of cobalamin metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Methylmalonic aciduria and homocystinuria type cblJ (MMAHC) | Impaired cobalamin transport due to defective ABCD4 function leads to accumulation of methylmalonic acid and homocysteine. | ClinVar, OMIM |
| Cobalamin deficiency | Reduced ABCD4 activity limits intracellular cobalamin availability, affecting methionine synthase and methylmalonyl-CoA mutase. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 6.5 | Low |
| Brain | 4.2 | Low |
| Testis | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 11.5 | Hepatocellular carcinoma cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| K562 | 5.4 | Leukemia cell line |
| HeLa | 4.9 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.271C>T (p.Arg91*) | Nonsense | <0.01% | Premature stop codon, loss of function |
| c.1000C>T (p.Arg334Trp) | Missense | <0.01% | Impaired cobalamin binding |
| c.1223A>G (p.Tyr408Cys) | Missense | <0.01% | Reduced transporter activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg91*) lead to truncated, non-functional protein, causing cblJ disease.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATPase activity |
| • cobalamin transport | • peroxisomal membrane |
| • transmembrane transport |
Pathways
• Cobalamin (vitamin B12) metabolism
• ABC transporter family pathway
Protein Summary
ABCD4 is a 606-amino acid peroxisomal membrane protein belonging to the ABC transporter subfamily D. It functions as a homodimer to transport cobalamin from the lysosome to the cytosol, where it is converted into adenosylcobalamin and methylcobalamin. The protein contains two transmembrane domains and two nucleotide-binding domains. Defects in ABCD4 disrupt cobalamin utilization, leading to combined methylmalonic aciduria and homocystinuria.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCD4 Knockout HEK293 Cell Line | EDJ-KQ5612 | Human | 5826 | Details Get a Quote |
| ABCD4 Knockout A-549 Cell Line | EDJ-KQ28904 | Human | 5826 | Details Get a Quote |
| ABCD4 Knockout HCT 116 Cell Line | EDJ-KQ28905 | Human | 5826 | Details Get a Quote |
| ABCD4 Knockout HeLa Cell Line | EDJ-KQ28906 | Human | 5826 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
