|
Gene id |
55779 |
| Gene Summary SNPs Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CFAP44 Gene UCSC Ensembl |
|
Aliases |
SPGF20, WDR52 |
|
Gene name |
cilia and flagella associated protein 44 |
|
Alternate names |
cilia- and flagella-associated protein 44, WD repeat domain 52, WD repeat-containing protein 52, |
|
Gene location |
3q13.2 (113441513: 113286929) Exons: 35 NC_000004.12
|
|
OMIM |
617559 |
SNPs |
rs780798708
Strand: Allele origin: Allele change: Mutation type: del
NC_000003.12 g.113380945_113380946del
NC_000003.11 g.113099792_113099793del
NM_018338.3 c.2005_2006del
NM_001164496.2 c.2005_2006del
NM_001164496.1 c.2005_2006del
NP_060808.2 p.Met669fs
NP_001157968.1 p.Met669fs|SEQ=[AT/-]|GENE=CFAP44
|
|
| Associated diseases |
References |
| Spermatogenesis defects | KEGG: H01282 |
| Multiple morphological anomalies of sperm flagella (MMAF) | MIK: 29277146 |
| Male Infertility | MIK: 29449551 |
| Multiple morphological abnormalities of the sperm flagella (MMAF) | MIK: 29277146 |
| Sperm motility defects | MIK: 29713536 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29277146 |
Multiple m
orphologic
al abnorma
lities of
the sperm
flagella (
MMAF)
|
CFAP44 mutations (3 homozygous: c.2935_2944del: p.D979*, c.T1769A: p.L590Q, c.2005_2006del: p.M669Vfs*13; and putative compound heterozygous: c.G3262A: p.G1088S and c.C1718A: p.P573H.), CFAP43 (c.3661-2A>-) |
|
27 patients wit
h MMAF
|
Male infertility |
CFAP43
CFAP44
|
Show abstract |
| 29713536 |
Sperm moti
lity defec
ts
|
c.2005_2006delAT (p.Met669Valfs*13) |
|
|
Male infertility |
NGS
|
Show abstract |
| 28552195 |
Multiple M
orphologic
al Abnorma
lities of
the Sperm
Flagella
|
c.2005_2006delAT (p.Met669Valfs*13) |
Hans Ch
inese
|
30
|
Male infertility |
NGS
|
Show abstract |
| 30904354 |
Multiple m
orphologic
al abnorma
lities of
the sperm
flagella (
MMAF)
|
c.4963C>T: p.Arg1655* |
Chinese
|
13 with MMAF
|
Male infertility |
NGS
|
Show abstract |
| 29449551 |
Male Infer
tility
|
c.1890+1G>A (p.Pro631Ile*22), c.3175C>T (p.Arg1059Ter), c.2818dupG (p.Glu940GlyfsTer19 ), c.1387G>T (p.Glu463Ter), c.4767delT (p.Ile1589MetfsTer6) |
Tunisia
, Afgha
nistan,
Iran,
Algeria
, Franc
e, Turk
ey, Mor
occo, I
ran, Fr
ance
|
78 MMAF
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
|