|
Gene id |
4000 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
LMNA Gene UCSC Ensembl |
|
Aliases |
CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1 |
|
Gene name |
lamin A/C |
|
Alternate names |
lamin, 70 kDa lamin, epididymis secretory sperm binding protein, lamin A/C-like 1, mandibuloacral dysplasia type A, prelamin-A/C, renal carcinoma antigen NY-REN-32, |
|
Gene location |
1q22 (156082545: 156140088) Exons: 17 NC_000001.11
|
|
Gene summary(Entrez) |
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassem
|
|
OMIM |
150330 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Atherosclerosis | GAD: 16262891 |
| Cardiomyopathy | OMIM: 150330 |
| Heart disease | OMIM: 150330 |
| Malouf syndrome | OMIM: 150330 |
| Dilated cardiomyopathy | KEGG: H00294 |
| Hutchinson-Gilford progeria syndrome | KEGG: H00601 |
| Emery-Dreifuss muscular dystrophy | OMIM: 150330 |
| Congenital generalized lipodystrophy | GAD: 11298098 |
| Diabetes | GAD: 11440372 |
| Insulin resistance | GAD: 12145775 |
| Metabolic syndrome | GAD: 19841875 |
| Dyslipidemias | GAD: 12145775 |
| Charcot-Marie-Tooth disease | KEGG: H00264 |
| Alzheimer's disease | GAD: 18830724 |
| Female infertility | INFBASE: 23605101 |
| Hypergonadotropic hypogonadism | INFBASE: 19283854 |
| Polycystic ovary syndrome (PCOS) | INFBASE: 19401371 |
| Familial partial lipodystrophy | KEGG: H00420 |
| Lipodystrophy | OMIM: 150330 |
| Limb-girdle muscular dystrophy | KEGG: H00593 |
| Restrictive dermopathy | KEGG: H00663 |
| Mandibuloacral dysplasia | OMIM: 150330 |
| Nephropathy | GAD: 16117820 |
| Male factor infertility | MIK: 29961538 |
| Mouse spermiogenesis | MIK: 25118303 |
| Oligozoospermia | MIK: 21989496 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 25118303 |
Mouse sper
miogenesis
|
|
|
|
Male infertility |
|
Show abstract |
| 29961538 |
Male facto
r infertil
ity
|
|
|
318 (128 couple
s presenting wi
th OAT (MF) and
118 maternal a
ge-matched cont
rol (no MF) sub
jects undergoin
g infertility t
reatment, 72 su
rplus cryoprese
rved blastocyst
s)
|
Male infertility |
RNA-seq
|
Show abstract |
| 21989496 |
Oligozoosp
ermia
|
|
|
11 (8 infertile
and 3 fertile
men)
|
Male infertility |
Microarray
|
Show abstract |
|