| Type | Description |
|---|---|
| Definition | insulin like growth factor binding protein acid labile subunit |
| Date | Results | Publications |
|---|---|---|
| 2020-10-31 13:13:00 | Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature. | 31834863 |
| 2017-09-30 10:40:00 | The aim of this study was to evaluate the potential pathogenicity of eleven IGFALS variants. | 27018247 |
| 2017-06-10 12:39:00 | Previously characterized disease-causing mutations in IGF2, IGF1R, IGF2R, or IGFALS all were found in the general population but with allele frequencies of <1:30,000. | 28389567 |
| 2017-04-29 10:08:00 | To the known phenotype of ACLSD (i.e. short stature, reduced serum levels of IGF-I and ALS, extremely low serum IGFBP-3 and disturbed ternary complex formation), the study adds reduced birth weight, head circumference and serum IGF-II. | 28249955 |
| 2016-03-12 10:04:00 | Mutations in the IGFALS and low expression level of IGFALS proteins lead to growth and development retardation. [Review] | 26704943 |
| Type | IDs |
|---|---|
| Synonymous | ACLSD, ALS |
| Gene |
UniProtKB-ID:
ALS_HUMAN,
Q8TAY0_HUMAN
UniprotKB:
P35858,
Q8TAY0
UniParc:
UPI000000088A,
UPI00000712A3,
UPI00019863AB
EMBL:
M86826,
AF192554,
AK303146,
BC025681,
AL031724,
AC012180
Ensembl:
ENSG00000099769
KO:
hsa:3483
|
| Nucleutide sequences |
EMBL-CDS:
AAA36047.1,
BAG64250.1,
CAC36078.1,
AAF06774.1,
AAH25681.1
Ensembl_TRS:
ENST00000415638,
ENST00000215539
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000416683,
ENSP00000215539
RefSeq:
NP_001139478.1,
NP_004961.1
|
| Others |
UniRef100:
UniRef100_Q8TAY0,
UniRef100_P35858
UniRef90:
UniRef90_P35858
UniRef50:
UniRef50_P35858
UniGene:
Hs.839
CCDS:
CCDS10446.1,
CCDS53982.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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